K122Q (p.Lys122Gln) variant of SLC22A8 (Organic anion transporter 3)
K122Q (p.Lys122Gln) 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 0.48 / 1. The record also includes population frequency data and structural context.
K122Q (p.Lys122Gln) variant details
- p.Lys122Gln
- TOPMed rs1367875873
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.42
- MetaLR 0.38
- MetaSVM -0.29
- CADD 24.90
- PolyPhen-2 0.63
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available