A31S (p.Ala31Ser) variant of SLC22A2 (O15244)
A31S (p.Ala31Ser) in SLC22A2 (O15244) 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 0.21 / 1. The record also includes population frequency data and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- ExAC rs749224875
- TOPMed rs749224875
- gnomAD rs749224875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.22
- CADD 10.90
- PolyPhen-2 0.18
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available