V101L (p.Val101Leu) variant of PKLR (Pyruvate kinase PKLR)
V101L (p.Val101Leu) 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 0.69 / 1. The record also includes population frequency data and structural context.
V101L (p.Val101Leu) variant details
- p.Val101Leu
- ESP rs143984223
- ExAC rs143984223
- TOPMed rs143984223
- gnomAD rs143984223
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.67
- CADD 22.90
- PolyPhen-2 0.24
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available