G4S (p.Gly4Ser) variant of GJB2 (Gap junction beta-2 protein)
G4S (p.Gly4Ser) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G4S (p.Gly4Ser) variant details
- p.Gly4Ser
- TOPMed rs1959063951
- gnomAD rs1959063951
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.36
- MetaLR 0.78
- MetaSVM -0.13
- CADD 0.72
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available