I10L (p.Ile10Leu) variant of GJB6 (Gap junction beta-6 protein)
I10L (p.Ile10Leu) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
I10L (p.Ile10Leu) variant details
- p.Ile10Leu
- gnomAD 13-20223453-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- MetaLR 0.53
- MetaSVM -0.20
- CADD 6.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available