R50W (p.Arg50Trp) variant of NPHS2 (Podocin)
R50W (p.Arg50Trp) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R50W (p.Arg50Trp) variant details
- p.Arg50Trp
- rs886045596
- ClinGen CA10608825
- ClinVar RCV000297548
- ClinVar RCV004021379
- Uncertain significance
- Inborn genetic diseases; Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.42
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Nephrotic syndrome, type 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00016)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)