R20C (p.Arg20Cys) variant of SLC12A1 (Q13621)
R20C (p.Arg20Cys) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- cosmic curated COSV10521
- ExAC rs764832819
- TOPMed rs764832819
- gnomAD rs764832819
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.61
- MetaLR 0.76
- MetaSVM 0.73
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available