A806D (p.Ala806Asp) variant of NPHS1 (Nephrin)
A806D (p.Ala806Asp) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A806D (p.Ala806Asp) variant details
- p.Ala806Asp
- rs386833912
- ClinGen CA250185
- ClinVar RCV000049886
- ClinVar RCV000712426
- Pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.35
- MetaLR 0.10
- MetaSVM -1.03
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Finnish congenital nephrotic syndrome)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. (PMID 11317351)
- Cited in: Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital… (PMID 11726550)