A35T (p.Ala35Thr) variant of SLC12A1 (Q13621)
A35T (p.Ala35Thr) 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, published literature, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- gnomAD 15-48207822-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.16
- MetaLR 0.41
- MetaSVM -0.55
- CADD 3.90
- PolyPhen-2 0.20
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available