A25P (p.Ala25Pro) variant of SLC12A2 (P55011)
A25P (p.Ala25Pro) 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.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- gnomAD 5-128084027-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.11
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available