A29V (p.Ala29Val) variant of SLC12A2 (P55011)
A29V (p.Ala29Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD 5-128084040-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.12
- CADD 15.10
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available