I74S (p.Ile74Ser) variant of GJB6 (Gap junction beta-6 protein)
I74S (p.Ile74Ser) in GJB6 (Gap junction beta-6 protein) is a missense change. The record also includes variant effect predictions and structural context.
I74S (p.Ile74Ser) variant details
- p.Ile74Ser
- cosmic curated COSV10878
- Missense
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- Structural context available