R75H (p.Arg75His) variant of SLC22A8 (Organic anion transporter 3)
R75H (p.Arg75His) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R75H (p.Arg75His) variant details
- p.Arg75His
- cosmic curated COSV60324
- ESP rs148569801
- ExAC rs148569801
- TOPMed rs148569801
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.48
- MetaLR 0.54
- MetaSVM 0.29
- CADD 23.80
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available