C124Y (p.Cys124Tyr) variant of NPHS2 (Podocin)
C124Y (p.Cys124Tyr) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C124Y (p.Cys124Tyr) variant details
- p.Cys124Tyr
- rs2125790095
- ClinGen CA343570779
- ClinVar RCV002019476
- ClinVar RCV003989743
- Conflicting interpretations
- not provided; not specified; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.86
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Nephrotic syndrome, type 2)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)