R76R (p.Arg76Arg) variant of GJA1 (Gap junction alpha-1 protein)
R76R (p.Arg76Arg) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R76R (p.Arg76Arg) variant details
- p.Arg76Arg
- rs1320486044
- gnomAD 6-121447075-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available