A12V (p.Ala12Val) variant of SLC12A2 (P55011)
A12V (p.Ala12Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- TOPMed rs895786562
- gnomAD rs895786562
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.32
- CADD 11.80
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available