G45S (p.Gly45Ser) variant of GJB1 (Gap junction beta-1 protein)
G45S (p.Gly45Ser) in GJB1 (Gap junction beta-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- gnomAD X-71223840-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.82
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available