V736A (p.Val736Ala) variant of NPHS1 (Nephrin)
V736A (p.Val736Ala) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V736A (p.Val736Ala) variant details
- p.Val736Ala
- rs1973100441
- ClinGen CA405397151
- ClinVar RCV003471577
- TOPMed rs1973100441
- Likely pathogenic
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.73
- MetaLR 0.59
- MetaSVM 0.38
- CADD 23.30
- SIFT 0.00
- ClinVar: Likely pathogenic (Finnish congenital nephrotic syndrome)
- EBI: Likely pathogenic (in NPHS1)
- UniProt: Likely pathogenic (in NPHS1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)