Q41R (p.Gln41Arg) variant of GJB6 (Gap junction beta-6 protein)
Q41R (p.Gln41Arg) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q41R (p.Gln41Arg) variant details
- p.Gln41Arg
- gnomAD 13-20223359-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- MetaLR 0.89
- MetaSVM 0.84
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available