A29P (p.Ala29Pro) variant of SLC12A2 (P55011)
A29P (p.Ala29Pro) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- gnomAD 5-128084039-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.13
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available