p.Asn62 Val63delinsMet variant of GJB6 (Gap junction beta-6 protein)
p.Asn62 Val63delinsMet in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
p.Asn62 Val63delinsMet variant details
- gnomAD 13-20223293-ACAT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 17.90
- Population evidence available
- Literature evidence available