MISSENSE chr10:g.123256215T>G [0/1] rs141235720 (variation viewer)
Variant score: 0.600 CONTRIBUTING VARIANT
Transcripts:
FGFR2:uc001lfg.4:c.518A>C:p.E173A FGFR2:ENST00000429361.1:c.518A>C:p.E173A FGFR2:NM_000141:c.518A>C:p.E173A
Pathogenicity Data:
1.00
No pathogenicity data
Mutation Taster: 0.999 (P)
Frequency Data:
No frequency data
1000Genomes: 0.02%