S17Y (p.Ser17Tyr) variant of GJB2 (Gap junction beta-2 protein)
S17Y (p.Ser17Tyr) in GJB2 (Gap junction beta-2 protein) is a missense change. The record also includes variant effect predictions and structural context.
S17Y (p.Ser17Tyr) variant details
- p.Ser17Tyr
- cosmic curated COSV10124
- Missense
- MetaLR 0.99
- MetaSVM 1.02
- SIFT 0.00
- Structural context available