R7R (p.Arg7Arg) variant of ATP1A2 (P50993)
R7R (p.Arg7Arg) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R7R (p.Arg7Arg) variant details
- p.Arg7Arg
- gnomAD 1-160120914-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0829
- CADD 0.32
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available