V260E (p.Val260Glu) variant of NPHS2 (Podocin)
V260E (p.Val260Glu) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Steroid-resistant nephrotic syndrome; not provided; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V260E (p.Val260Glu) variant details
- p.Val260Glu
- rs775006954
- ClinGen CA1267132
- ClinVar RCV000517167
- ClinVar RCV000761450
- Pathogenic
- Steroid-resistant nephrotic syndrome; not provided; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.95
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Steroid-resistant nephrotic syndrome; not provided; Nephrotic sy)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant… (PMID 15253708)
- Cited in: A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. (PMID 22565185)