A739V (p.Ala739Val) variant of NPHS1 (Nephrin)
A739V (p.Ala739Val) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A739V (p.Ala739Val) variant details
- p.Ala739Val
- rs386833907
- ClinGen CA250174
- ClinVar RCV000049880
- UniProt VAR 064222
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- MetaLR 0.58
- MetaSVM 0.22
- CADD 29.20
- PolyPhen-2 0.96
- 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 9e-07)
- 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)