L73F (p.Leu73Phe) variant of PKLR (Pyruvate kinase PKLR)
L73F (p.Leu73Phe) 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 0.54 / 1. The record also includes population frequency data and structural context.
L73F (p.Leu73Phe) variant details
- p.Leu73Phe
- rs200791251
- ClinGen CA1144427
- ClinVar RCV001508889
- ExAC rs200791251
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.52
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CNSHA2)
- UniProt: Uncertain significance (in CNSHA2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00038)
- Structural context available