R13W (p.Arg13Trp) variant of PKLR (Pyruvate kinase PKLR)
R13W (p.Arg13Trp) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- ExAC rs772818969
- TOPMed rs772818969
- gnomAD rs772818969
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.32
- CADD 10.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available