F29C (p.Phe29Cys) variant of GJB6 (Gap junction beta-6 protein)
F29C (p.Phe29Cys) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F29C (p.Phe29Cys) variant details
- p.Phe29Cys
- gnomAD 13-20223395-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- MetaLR 0.98
- MetaSVM 1.05
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available