G45D (p.Gly45Asp) variant of GJB1 (Gap junction beta-1 protein)
G45D (p.Gly45Asp) in GJB1 (Gap junction beta-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- gnomAD X-71223841-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.86
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available