A28V (p.Ala28Val) variant of SLC12A2 (P55011)
A28V (p.Ala28Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- TOPMed rs1759932009
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.20
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 3.1e-05)
- Structural context available