S11T (p.Ser11Thr) variant of GJB1 (Gap junction beta-1 protein)
S11T (p.Ser11Thr) in GJB1 (Gap junction beta-1 protein) is a missense change. The record also includes structural context.
S11T (p.Ser11Thr) variant details
- p.Ser11Thr
- cosmic curated COSV62139
- Missense
- Structural context available