M1V (p.Met1Val) variant of GJB6 (Gap junction beta-6 protein)
M1V (p.Met1Val) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes population frequency data.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs776848994
- ClinGen CA6904530
- ClinVar RCV000578760
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available