C64F (p.Cys64Phe) variant of GJB2 (Gap junction beta-2 protein)
C64F (p.Cys64Phe) in GJB2 (Gap junction beta-2 protein) is a missense change. The record also includes variant effect predictions and structural context.
C64F (p.Cys64Phe) variant details
- p.Cys64Phe
- cosmic curated COSV10749
- Missense
- MetaLR 0.99
- MetaSVM 0.97
- SIFT 0.00
- Structural context available