R32Q (p.Arg32Gln) variant of NPHS1 (Nephrin)
R32Q (p.Arg32Gln) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- rs781561486
- ClinGen CA9390913
- cosmic curated COSV62286
- ClinVar RCV003990511
- Uncertain significance
- Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.12
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Finnish congenital nephrotic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)