V13A (p.Val13Ala) variant of GJB1 (Gap junction beta-1 protein)
V13A (p.Val13Ala) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CMTX1. The record also includes structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- gnomAD rs1220424626
- Uncertain significance
- in CMTX1
- Missense
- EBI: Variant of uncertain significance (in CMTX1)
- UniProt: Uncertain significance (in CMTX1)
- Structural context available