R33R (p.Arg33Arg) variant of GJA1 (Gap junction alpha-1 protein)
R33R (p.Arg33Arg) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R33R (p.Arg33Arg) variant details
- p.Arg33Arg
- rs752719742
- gnomAD 6-121446946-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 11.50
- Most common in the Latino/Admixed American population (allele frequency 0.00045)
- Structural context available
- Literature evidence available