F29V (p.Phe29Val) variant of GJB6 (Gap junction beta-6 protein)
F29V (p.Phe29Val) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
F29V (p.Phe29Val) variant details
- p.Phe29Val
- gnomAD 13-20223396-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available