R19H (p.Arg19His) variant of SLC22A5 (O76082)
R19H (p.Arg19His) in SLC22A5 (O76082) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CDSP. 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.
R19H (p.Arg19His) variant details
- p.Arg19His
- TOPMed rs72552723
- gnomAD rs72552723
- Pathogenic
- in CDSP
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.49
- CADD 24.50
- PolyPhen-2 0.59
- SIFT 0.14
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available