L74F (p.Leu74Phe) variant of SLC22A8 (Organic anion transporter 3)
L74F (p.Leu74Phe) in SLC22A8 (Organic anion transporter 3) 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 0.41 / 1. The record also includes population frequency data and structural context.
L74F (p.Leu74Phe) variant details
- p.Leu74Phe
- rs370233107
- ClinGen CA6059988
- ClinVar RCV004451350
- ExAC rs370233107
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.36
- MetaLR 0.49
- MetaSVM 0.22
- CADD 21.90
- PolyPhen-2 0.91
- SIFT 0.62
- 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