P3A (p.Pro3Ala) variant of SLC12A2 (P55011)
P3A (p.Pro3Ala) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- gnomAD 5-128083961-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.24
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available