V834F (p.Val834Phe) variant of NPHS1 (Nephrin)
V834F (p.Val834Phe) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V834F (p.Val834Phe) variant details
- p.Val834Phe
- rs386833917
- ClinGen CA250195
- ClinVar RCV000049891
- UniProt VAR 064225
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.85
- MetaLR 0.79
- MetaSVM 0.65
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. (PMID 11317351)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)