A24V (p.Ala24Val) variant of SLC12A2 (P55011)
A24V (p.Ala24Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD 5-128084025-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.09
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available