V27F (p.Val27Phe) variant of GJB1 (Gap junction beta-1 protein)
V27F (p.Val27Phe) in GJB1 (Gap junction beta-1 protein) is a missense change. The record also includes structural context.
V27F (p.Val27Phe) variant details
- p.Val27Phe
- cosmic curated COSV10066
- Missense
- Structural context available