D71Y (p.Asp71Tyr) variant of SLC12A1 (Q13621)
D71Y (p.Asp71Tyr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D71Y (p.Asp71Tyr) variant details
- p.Asp71Tyr
- gnomAD 15-48207930-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.50
- MetaLR 0.11
- MetaSVM -0.92
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available