I35V (p.Ile35Val) variant of GJB6 (Gap junction beta-6 protein)
I35V (p.Ile35Val) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I35V (p.Ile35Val) variant details
- p.Ile35Val
- gnomAD 13-20223378-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- MetaLR 0.76
- MetaSVM 0.44
- CADD 15.00
- PolyPhen-2 0.09
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available