V49G (p.Val49Gly) variant of NPHS1 (Nephrin)
V49G (p.Val49Gly) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V49G (p.Val49Gly) variant details
- p.Val49Gly
- rs1973263497
- ClinGen CA405412136
- ClinVar RCV001810544
- TOPMed rs1973263497
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.39
- CADD 18.70
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)