D685Y (p.Asp685Tyr) variant of FGFR2 (P21802)
D685Y (p.Asp685Tyr) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bilateral sensorineural hearing impairment. The record also includes structural context.
D685Y (p.Asp685Tyr) variant details
- p.Asp685Tyr
- rs2133823028
- ClinGen CA378313044
- ClinVar RCV001730847
- Ensembl rs2133823028
- Likely pathogenic
- Bilateral sensorineural hearing impairment
- Missense
- ClinVar: Likely pathogenic (Bilateral sensorineural hearing impairment)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available