R168H (p.Arg168His) variant of NPHS2 (Podocin)
R168H (p.Arg168His) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Finnish congenital nephrotic syndrome; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R168H (p.Arg168His) variant details
- p.Arg168His
- rs530318579
- ClinGen CA199046
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62635
- Pathogenic/Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.95
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Finnish congenital nephrotic syndrome; Nephrotic s)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant… (PMID 15253708)
- Cited in: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (PMID 20798252)