I26V (p.Ile26Val) variant of SLC12A1 (Q13621)
I26V (p.Ile26Val) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- gnomAD 15-48207795-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.64
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available