L96V (p.Leu96Val) variant of NPHS1 (Nephrin)
L96V (p.Leu96Val) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Finnish congenital nephrotic syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L96V (p.Leu96Val) variant details
- p.Leu96Val
- rs386833929
- ClinGen CA250214
- ClinVar RCV000049903
- ClinVar RCV001853056
- Likely pathogenic
- Finnish congenital nephrotic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.71
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome; not provided)
- 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: Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. (PMID 18614772)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)