G15R (p.Gly15Arg) variant of NPHS1 (Nephrin)
G15R (p.Gly15Arg) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs73928330
- ClinGen CA9390942
- ClinVar RCV000244392
- ClinVar RCV000669644
- Conflicting interpretations
- not specified; not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.13
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Finnish congenital nephrotic syndro)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.03)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)