S120F (p.Ser120Phe) variant of PKLR (Pyruvate kinase PKLR)
S120F (p.Ser120Phe) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S120F (p.Ser120Phe) variant details
- p.Ser120Phe
- rs2525303590
- ClinGen CA342756075
- ClinVar RCV003135698
- UniProt VAR 011442
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hematologically important mutations: red cell pyruvate kinase (1st update). (PMID 9075576)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)