A2V (p.Ala2Val) variant of SLC12A3 (P55017)
A2V (p.Ala2Val) in SLC12A3 (P55017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1365506259
- gnomAD rs1365506259
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available