R40L (p.Arg40Leu) variant of PKLR (Pyruvate kinase PKLR)
R40L (p.Arg40Leu) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CNSHA2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- ExAC rs745811076
- TOPMed rs745811076
- gnomAD rs745811076
- Uncertain significance
- in CNSHA2
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.48
- CADD 19.60
- PolyPhen-2 0.14
- SIFT 0.03
- EBI: Variant of uncertain significance (in CNSHA2)
- UniProt: Uncertain significance (in CNSHA2)
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)
- Structural context available