R135W (p.Arg135Trp) variant of PKLR (Pyruvate kinase PKLR)
R135W (p.Arg135Trp) 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 0.71 / 1. The record also includes population frequency data and structural context.
R135W (p.Arg135Trp) variant details
- p.Arg135Trp
- rs770175821
- ClinGen CA342755819
- ClinVar RCV002634313
- ExAC rs770175821
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.90
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available