V736M (p.Val736Met) variant of NPHS1 (Nephrin)
V736M (p.Val736Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V736M (p.Val736Met) variant details
- p.Val736Met
- rs1131692245
- ClinGen CA405397157
- ClinVar RCV000495969
- UniProt VAR 075254
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.69
- MetaLR 0.68
- MetaSVM 0.49
- CADD 25.10
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic (in NPHS1)
- UniProt: Likely pathogenic (in NPHS1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. (PMID 26560236)
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)