P368L (p.Pro368Leu) variant of NPHS1 (Nephrin)
P368L (p.Pro368Leu) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P368L (p.Pro368Leu) variant details
- p.Pro368Leu
- rs386833867
- ClinGen CA250094
- ClinVar RCV000049837
- ClinVar RCV001853052
- Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 0.86
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely 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: Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. (PMID 22732337)