A36V (p.Ala36Val) variant of SLC12A3 (P55017)
A36V (p.Ala36Val) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- Ensembl rs1964326505
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available