R63R (p.Arg63Arg) variant of SLC12A1 (Q13621)
R63R (p.Arg63Arg) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R63R (p.Arg63Arg) variant details
- p.Arg63Arg
- rs35240149
- gnomAD 15-48207908-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 8.03
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available
- Literature evidence available