F31L (p.Phe31Leu) variant of GJB6 (Gap junction beta-6 protein)
F31L (p.Phe31Leu) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- cosmic curated COSV10501
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)