A107V (p.Ala107Val) variant of NPHS1 (Nephrin)
A107V (p.Ala107Val) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A107V (p.Ala107Val) variant details
- p.Ala107Val
- rs386833934
- ClinGen CA250223
- ClinVar RCV000049908
- UniProt VAR 064196
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.42
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). (PMID 20172850)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)