R41W (p.Arg41Trp) variant of PKLR (Pyruvate kinase PKLR)
R41W (p.Arg41Trp) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- rs375189218
- ClinGen CA1144441
- ClinVar RCV000283593
- ClinVar RCV003137904
- Uncertain significance
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.54
- CADD 23.00
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Pyruvate kinase deficiency of red cells)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available