R86H (p.Arg86His) variant of PKLR (Pyruvate kinase PKLR)
R86H (p.Arg86His) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R86H (p.Arg86His) variant details
- p.Arg86His
- rs375471342
- ClinGen CA1144418
- ClinVar RCV003131977
- ESP rs375471342
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.89
- CADD 24.60
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance (in CNSHA2)
- UniProt: Uncertain significance (in CNSHA2)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available