R99H (p.Arg99His) variant of PKLR (Pyruvate kinase PKLR)
R99H (p.Arg99His) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R99H (p.Arg99His) variant details
- p.Arg99His
- cosmic curated COSV61362
- 1000Genomes rs534895384
- ExAC rs534895384
- gnomAD rs534895384
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.62
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available