R50H (p.Arg50His) variant of SLC22A8 (Organic anion transporter 3)
R50H (p.Arg50His) in SLC22A8 (Organic anion transporter 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs545835369
- NCI-TCGA Cosmic COSV6032
- cosmic curated COSV60327
- 1000Genomes rs545835369
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.03
- MetaLR 0.13
- MetaSVM -1.02
- CADD 12.40
- PolyPhen-2 0.03
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available