I9V (p.Ile9Val) variant of GJB2 (Gap junction beta-2 protein)
I9V (p.Ile9Val) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10124
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.38
- MetaLR 0.80
- MetaSVM 0.40
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available