R99C (p.Arg99Cys) variant of PKLR (Pyruvate kinase PKLR)
R99C (p.Arg99Cys) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R99C (p.Arg99Cys) variant details
- p.Arg99Cys
- ESP rs148636159
- ExAC rs148636159
- gnomAD rs148636159
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.74
- CADD 26.30
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available