A7S (p.Ala7Ser) variant of SLC12A2 (P55011)
A7S (p.Ala7Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- TOPMed rs1051964251
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.27
- CADD 14.50
- PolyPhen-2 0.04
- SIFT 0.09
- Population evidence available
- Structural context available