C143Y (p.Cys143Tyr) variant of NOS1AP (O75052)
C143Y (p.Cys143Tyr) in NOS1AP (O75052) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nephrotic syndrome, type 22. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
C143Y (p.Cys143Tyr) variant details
- p.Cys143Tyr
- rs1656826074
- ClinGen CA343389635
- ClinVar RCV001290108
- UniProt VAR 085238
- Pathogenic
- Nephrotic syndrome, type 22
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 1.00
- MetaLR 0.35
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic (Nephrotic syndrome, type 22)
- EBI: Pathogenic (in NPHS22)
- UniProt: Pathogenic (in NPHS22)
- Structural context available
- Cited in: Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. (PMID 33523862)