V180M (p.Val180Met) variant of NPHS2 (Podocin)
V180M (p.Val180Met) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Nephrotic syndrome, type 2; Steroid-resistant nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V180M (p.Val180Met) variant details
- p.Val180Met
- rs74315347
- ClinGen CA117458
- ClinVar RCV000005699
- ClinVar RCV000516417
- Pathogenic
- not provided; Nephrotic syndrome, type 2; Steroid-resistant nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.69
- CADD 24.30
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Nephrotic syndrome, type 2; Steroid-resistant neph)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)
- Cited in: A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. (PMID 23595123)