N393S (p.Asn393Ser) variant of PKLR (Pyruvate kinase PKLR)
N393S (p.Asn393Ser) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pyruvate kinase deficiency of red cells; Pyruvate kinase hyperacti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N393S (p.Asn393Ser) variant details
- p.Asn393Ser
- rs776594413
- ExAC rs776594413
- TOPMed rs776594413
- gnomAD rs776594413
- Pathogenic/Likely pathogenic
- not provided; Pyruvate kinase deficiency of red cells; Pyruvate kinase hyperacti
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.88
- MetaLR 0.99
- MetaSVM 1.01
- CADD 24.60
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pyruvate kinase deficiency of red cells; Pyruvate)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. (PMID 7706479)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)