R40W (p.Arg40Trp) variant of PKLR (Pyruvate kinase PKLR)
R40W (p.Arg40Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R40W (p.Arg40Trp) variant details
- p.Arg40Trp
- rs1484388413
- UniProt VAR 058467
- gnomAD rs1484388413
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.58
- CADD 22.40
- PolyPhen-2 0.80
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the HGDP:JAPANESE population (allele frequency 0.019)
- Structural context available
- Cited in: Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid… (PMID 19085939)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)