R138Q (p.Arg138Gln) variant of NPHS2 (Podocin)
R138Q (p.Arg138Gln) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R138Q (p.Arg138Gln) variant details
- p.Arg138Gln
- rs74315342
- ClinGen CA117446
- ClinVar RCV000005691
- ClinVar RCV000414576
- Pathogenic/Likely pathogenic
- not provided; Nephrotic syndrome, type 2; Steroid-resistant nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.94
- AlphaMissense 0.59
- MetaLR 0.98
- MetaSVM 1.07
- CADD 31.00
- PolyPhen-2 1.00
- 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 Amish population (allele frequency 0.011)
- Structural context available
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)
- Cited in: Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial… (PMID 11729243)