F52L (p.Phe52Leu) variant of GJA5 (Gap junction alpha-5 protein)
F52L (p.Phe52Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. The record also includes variant effect predictions.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- cosmic curated COSV54786
- Missense
- MetaLR 0.99
- MetaSVM 0.97
- SIFT 0.00