R65R (p.Arg65Arg) variant of ATP1A2 (P50993)
R65R (p.Arg65Arg) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R65R (p.Arg65Arg) variant details
- p.Arg65Arg
- rs121918619
- gnomAD 1-160123228-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 9.38
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial… (PMID 17877748)