R41L (p.Arg41Leu) variant of PKLR (Pyruvate kinase PKLR)
R41L (p.Arg41Leu) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- 1000Genomes rs374805791
- ExAC rs374805791
- TOPMed rs374805791
- gnomAD rs374805791
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.50
- CADD 20.10
- PolyPhen-2 0.07
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available