P5A (p.Pro5Ala) variant of SLC12A2 (P55011)
P5A (p.Pro5Ala) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- gnomAD 5-128083967-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.22
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available