R291W (p.Arg291Trp) variant of NPHS2 (Podocin)
R291W (p.Arg291Trp) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R291W (p.Arg291Trp) variant details
- p.Arg291Trp
- rs74315348
- ClinGen CA117460
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62634
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.90
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Nephrotic syndrome, type)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)
- Cited in: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (PMID 20798252)