G52C (p.Gly52Cys) variant of PKLR (Pyruvate kinase PKLR)
G52C (p.Gly52Cys) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G52C (p.Gly52Cys) variant details
- p.Gly52Cys
- ExAC rs760029571
- gnomAD rs760029571
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.66
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available