R50H (p.Arg50His) variant of SLC22A6 (Q4U2R8)
R50H (p.Arg50His) in SLC22A6 (Q4U2R8) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs11568626
- UniProt VAR 039683
- 1000Genomes rs11568626
- ESP rs11568626
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.11
- MetaLR 0.02
- MetaSVM -1.00
- CADD 16.00
- PolyPhen-2 0.05
- SIFT 0.16
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6). (PMID 15914676)
- Cited in: Analyses of coding region polymorphisms in apical and basolateral human organic anion transporter (OAT) genes [OAT1… (PMID 16164626)