R168C (p.Arg168Cys) variant of NPHS2 (Podocin)
R168C (p.Arg168Cys) 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; Nephrotic syndrome, type 2; Steroid-resistant nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R168C (p.Arg168Cys) variant details
- p.Arg168Cys
- rs786204583
- ClinGen CA199102
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62635
- Pathogenic/Likely pathogenic
- not provided; Nephrotic syndrome, type 2; Steroid-resistant nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Nephrotic syndrome, type 2; Steroid-resistant neph)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant… (PMID 15253708)
- Cited in: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West… (PMID 24072147)