A29S (p.Ala29Ser) variant of SLC12A2 (P55011)
A29S (p.Ala29Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 5-128084039-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.15
- CADD 8.95
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available