N118S (p.Asn118Ser) variant of PKLR (Pyruvate kinase PKLR)
N118S (p.Asn118Ser) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar 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 0.73 / 1. The record also includes population frequency data and structural context.
N118S (p.Asn118Ser) variant details
- p.Asn118Ser
- TOPMed rs1489078045
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.94
- AlphaMissense 0.96
- MetaLR 0.18
- MetaSVM -0.73
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (not provided)
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available