P82L (p.Pro82Leu) variant of PKLR (Pyruvate kinase PKLR)
P82L (p.Pro82Leu) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- cosmic curated COSV10523
- gnomAD rs1291071651
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.79
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available