A67V (p.Ala67Val) variant of SLC22A1 (O15245)
A67V (p.Ala67Val) in SLC22A1 (O15245) 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 0.28 / 1. The record also includes population frequency data and structural context.
A67V (p.Ala67Val) variant details
- p.Ala67Val
- ExAC rs777661737
- TOPMed rs777661737
- gnomAD rs777661737
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.24
- CADD 8.77
- PolyPhen-2 0.43
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available