R61R (p.Arg61Arg) variant of ATP1A1 (P05023)
R61R (p.Arg61Arg) in ATP1A1 (P05023) is a protein-truncating 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.
R61R (p.Arg61Arg) variant details
- p.Arg61Arg
- rs769951484
- gnomAD 1-116384842-G-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 21.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available