F141S (p.Phe141Ser) variant of PKLR (Pyruvate kinase PKLR)
F141S (p.Phe141Ser) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
F141S (p.Phe141Ser) variant details
- p.Phe141Ser
- rs1647533800
- ClinGen CA342755721
- ClinVar RCV003028600
- Ensembl rs1647533800
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.83
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available