R9H (p.Arg9His) variant of SLC22A8 (Organic anion transporter 3)
R9H (p.Arg9His) 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 0.17 / 1. The record also includes population frequency data and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- rs140192234
- ClinGen CA6060025
- cosmic curated COSV60325
- ClinVar RCV004091565
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.04
- CADD 13.80
- PolyPhen-2 0.07
- SIFT 0.53
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00066)
- Structural context available