D71E (p.Asp71Glu) variant of SLC12A1 (Q13621)
D71E (p.Asp71Glu) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D71E (p.Asp71Glu) variant details
- p.Asp71Glu
- gnomAD 15-48207932-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -0.95
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available