G95R (p.Gly95Arg) variant of PKLR (Pyruvate kinase PKLR)
G95R (p.Gly95Arg) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CNSHA2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G95R (p.Gly95Arg) variant details
- p.Gly95Arg
- rs750857114
- ExAC rs750857114
- TOPMed rs750857114
- gnomAD rs750857114
- Pathogenic
- in CNSHA2
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 0.98
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (Third update). (PMID 10772876)