D160V (p.Asp160Val) variant of NPHS2 (Podocin)
D160V (p.Asp160Val) 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, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D160V (p.Asp160Val) variant details
- p.Asp160Val
- rs74315346
- ClinGen CA343568973
- ClinVar RCV000735716
- Ensembl rs74315346
- Likely pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.96
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 1.03
- CADD 29.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Nephrotic syndrome, type 2)
- EBI: Likely pathogenic (in NPHS2)
- UniProt: Likely pathogenic (in NPHS2)
- Population evidence available
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)