V101M (p.Val101Met) variant of PKLR (Pyruvate kinase PKLR)
V101M (p.Val101Met) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V101M (p.Val101Met) variant details
- p.Val101Met
- ESP rs143984223
- ExAC rs143984223
- TOPMed rs143984223
- gnomAD rs143984223
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.83
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available