G4V (p.Gly4Val) variant of GJB2 (Gap junction beta-2 protein)
G4V (p.Gly4Val) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- 1000Genomes rs111033222
- ESP rs111033222
- ExAC rs111033222
- TOPMed rs111033222
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.40
- MetaLR 0.92
- MetaSVM 0.95
- CADD 17.00
- PolyPhen-2 0.03
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available