D310N (p.Asp310Asn) variant of NPHS1 (Nephrin)
D310N (p.Asp310Asn) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D310N (p.Asp310Asn) variant details
- p.Asp310Asn
- rs763972372
- ClinGen CA9390599
- ClinVar RCV000672110
- ClinVar RCV000821998
- Pathogenic
- Finnish congenital nephrotic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.63
- AlphaMissense 0.43
- MetaLR 0.61
- MetaSVM 0.28
- CADD 23.50
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Finnish congenital nephrotic syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)