V109M (p.Val109Met) variant of SLC22A8 (Organic anion transporter 3)
V109M (p.Val109Met) in SLC22A8 (Organic anion transporter 3) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data and structural context.
V109M (p.Val109Met) variant details
- p.Val109Met
- ExAC rs772480801
- TOPMed rs772480801
- gnomAD rs772480801
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.58
- MetaLR 0.85
- MetaSVM 0.89
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available