R62H (p.Arg62His) variant of SLC22A2 (O15244)
R62H (p.Arg62His) in SLC22A2 (O15244) 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 0.38 / 1. The record also includes population frequency data and structural context.
R62H (p.Arg62His) variant details
- p.Arg62His
- rs1017655480
- ClinGen CA151164491
- ClinVar RCV004261175
- TOPMed rs1017655480
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.35
- CADD 22.60
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available