R103C (p.Arg103Cys) variant of PKLR (Pyruvate kinase PKLR)
R103C (p.Arg103Cys) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R103C (p.Arg103Cys) variant details
- p.Arg103Cys
- cosmic curated COSV61360
- ExAC rs779765565
- TOPMed rs779765565
- gnomAD rs779765565
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.57
- CADD 32.00
- PolyPhen-2 0.69
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available