A31T (p.Ala31Thr) variant of SLC22A2 (O15244)
A31T (p.Ala31Thr) in SLC22A2 (O15244) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- cosmic curated COSV65268
- ExAC rs749224875
- TOPMed rs749224875
- gnomAD rs749224875
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.23
- CADD 7.69
- PolyPhen-2 0.18
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available