L73H (p.Leu73His) variant of PKLR (Pyruvate kinase PKLR)
L73H (p.Leu73His) 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 0.76 / 1. The record also includes population frequency data and structural context.
L73H (p.Leu73His) variant details
- p.Leu73His
- ESP rs140571200
- TOPMed rs140571200
- gnomAD rs140571200
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.84
- CADD 26.30
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance (in CNSHA2)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available