G95W (p.Gly95Trp) variant of PKLR (Pyruvate kinase PKLR)
G95W (p.Gly95Trp) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G95W (p.Gly95Trp) variant details
- p.Gly95Trp
- ExAC rs750857114
- TOPMed rs750857114
- gnomAD rs750857114
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.95
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available