R103G (p.Arg103Gly) variant of PKLR (Pyruvate kinase PKLR)
R103G (p.Arg103Gly) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R103G (p.Arg103Gly) variant details
- p.Arg103Gly
- ExAC rs779765565
- TOPMed rs779765565
- gnomAD rs779765565
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.54
- CADD 24.30
- PolyPhen-2 0.27
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available