V822M (p.Val822Met) variant of NPHS1 (Nephrin)
V822M (p.Val822Met) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Finnish congenital nephrotic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V822M (p.Val822Met) variant details
- p.Val822Met
- rs267606918
- ClinGen CA250042
- ClinVar RCV000007278
- ClinVar RCV001851717
- Pathogenic
- Finnish congenital nephrotic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.18
- MetaLR 0.07
- MetaSVM -1.13
- CADD 23.30
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic (Finnish congenital nephrotic syndrome; not provided)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: A familial childhood-onset relapsing nephrotic syndrome. (PMID 17290294)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)