D3N (p.Asp3Asn) variant of GJA5 (Gap junction alpha-5 protein)
D3N (p.Asp3Asn) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- cosmic curated COSV10504
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- MetaLR 0.96
- MetaSVM 1.11
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.02
- Population evidence available