Q48H (p.Gln48His) variant of GJB2 (Gap junction beta-2 protein)
Q48H (p.Gln48His) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q48H (p.Gln48His) variant details
- p.Gln48His
- gnomAD 13-20189438-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.72
- MetaLR 0.97
- MetaSVM 1.05
- CADD 7.89
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available