D47N (p.Asp47Asn) variant of GJA5 (Gap junction alpha-5 protein)
D47N (p.Asp47Asn) in GJA5 (Gap junction alpha-5 protein) is a missense change. The record also includes variant effect predictions.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- cosmic curated COSV54784
- Missense
- MetaLR 0.98
- MetaSVM 0.85
- SIFT 0.00