P8A (p.Pro8Ala) variant of SLC12A2 (P55011)
P8A (p.Pro8Ala) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- gnomAD 5-128083976-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.30
- CADD 20.80
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available