Y7H (p.Tyr7His) variant of GJB1 (Gap junction beta-1 protein)
Y7H (p.Tyr7His) in GJB1 (Gap junction beta-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Y7H (p.Tyr7His) variant details
- p.Tyr7His
- gnomAD X-71223726-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.61
- CADD 22.10
- PolyPhen-2 0.21
- SIFT 0.28
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available