N374Y (p.Asn374Tyr) variant of NPHS2 (Podocin)
N374Y (p.Asn374Tyr) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
N374Y (p.Asn374Tyr) variant details
- p.Asn374Tyr
- rs2125763683
- ClinGen CA343565208
- ClinVar RCV001849837
- Ensembl rs2125763683
- Likely pathogenic
- Nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.11
- MetaLR 0.94
- MetaSVM 0.90
- PolyPhen-2 0.85
- SIFT 0.01
- MutPred 0.30
- ClinVar: Likely pathogenic (Nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available