A24P (p.Ala24Pro) variant of SLC12A2 (P55011)
A24P (p.Ala24Pro) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A24P (p.Ala24Pro) variant details
- p.Ala24Pro
- gnomAD 5-128084024-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.09
- CADD 16.40
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available