A2G (p.Ala2Gly) variant of SLC12A3 (P55017)
A2G (p.Ala2Gly) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs1365506259
- ClinGen CA395975966
- ClinVar RCV002278976
- TOPMed rs1365506259
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 24.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available