R33H (p.Arg33His) variant of GJA5 (Gap junction alpha-5 protein)
R33H (p.Arg33His) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R33H (p.Arg33His) variant details
- p.Arg33His
- TOPMed rs1311922669
- gnomAD rs1311922669
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- MetaLR 0.99
- MetaSVM 0.95
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available