E2Q (p.Glu2Gln) variant of SLC12A2 (P55011)
E2Q (p.Glu2Gln) in SLC12A2 (P55011) 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 0.45 / 1. The record also includes population frequency data and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- rs2480679879
- ClinGen CA360735620
- ClinVar RCV003821310
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.31
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available