S44F (p.Ser44Phe) variant of GJA5 (Gap junction alpha-5 protein)
S44F (p.Ser44Phe) in GJA5 (Gap junction alpha-5 protein) is a missense change. The record also includes variant effect predictions.
S44F (p.Ser44Phe) variant details
- p.Ser44Phe
- cosmic curated COSV54786
- Missense
- MetaLR 0.97
- MetaSVM 1.12
- SIFT 0.04