D160G (p.Asp160Gly) variant of NPHS2 (Podocin)
D160G (p.Asp160Gly) 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 0.88 / 1. The record also includes published literature and structural context.
D160G (p.Asp160Gly) variant details
- p.Asp160Gly
- rs74315346
- ClinGen CA117456
- ClinVar RCV000005698
- UniProt VAR 010234
- Likely pathogenic
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Nephrotic syndrome, type 2)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Structural context available
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)
- Cited in: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West… (PMID 24072147)