R20S (p.Arg20Ser) variant of SLC12A1 (Q13621)
R20S (p.Arg20Ser) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- gnomAD 15-48207777-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.57
- MetaLR 0.76
- MetaSVM 0.74
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available