R30R (p.Arg30Arg) variant of ATP1A1 (P05023)
R30R (p.Arg30Arg) in ATP1A1 (P05023) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R30R (p.Arg30Arg) variant details
- p.Arg30Arg
- rs773312833
- gnomAD 1-116384091-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 12.90
- Most common in the Latino/Admixed American population (allele frequency 0.0014)
- Structural context available
- Literature evidence available