R33R (p.Arg33Arg) variant of GJA5 (Gap junction alpha-5 protein)
R33R (p.Arg33Arg) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R33R (p.Arg33Arg) variant details
- p.Arg33Arg
- rs587616919
- gnomAD 1-147759140-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 9.62
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Literature evidence available