D38Y (p.Asp38Tyr) variant of SLC12A1 (Q13621)
D38Y (p.Asp38Tyr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D38Y (p.Asp38Tyr) variant details
- p.Asp38Tyr
- gnomAD rs1214617731
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.19
- MetaLR 0.04
- MetaSVM -1.03
- CADD 13.80
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available