V20M (p.Val20Met) variant of GJA5 (Gap junction alpha-5 protein)
V20M (p.Val20Met) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
V20M (p.Val20Met) variant details
- p.Val20Met
- cosmic curated COSV54783
- TOPMed rs1360158783
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- MetaLR 0.89
- MetaSVM 0.93
- CADD 19.50
- PolyPhen-2 0.12
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)