V709G (p.Val709Gly) variant of NPHS1 (Nephrin)
V709G (p.Val709Gly) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V709G (p.Val709Gly) variant details
- p.Val709Gly
- rs386833902
- ClinGen CA250167
- ClinVar RCV000049875
- UniProt VAR 064220
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.85
- MetaLR 0.58
- MetaSVM 0.28
- CADD 29.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. (PMID 18503012)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)