R15H (p.Arg15His) variant of SLC22A6 (Q4U2R8)
R15H (p.Arg15His) in SLC22A6 (Q4U2R8) 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 0.40 / 1. The record also includes population frequency data and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- rs751931872
- ClinGen CA6059543
- ClinVar RCV004329826
- ExAC rs751931872
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.27
- MetaLR 0.20
- MetaSVM -0.62
- CADD 24.10
- PolyPhen-2 0.38
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available