A30S (p.Ala30Ser) variant of SLC12A2 (P55011)
A30S (p.Ala30Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 5-128084042-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.21
- CADD 14.90
- PolyPhen-2 0.27
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available