R888K (p.Arg888Lys) variant of NPHS1 (Nephrin)
R888K (p.Arg888Lys) in NPHS1 (Nephrin) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
R888K (p.Arg888Lys) variant details
- p.Arg888Lys
- rs778951863
- ClinGen CA405391027
- ClinVar RCV000670625
- ClinVar RCV003558508
- Pathogenic/Likely pathogenic
- not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 0.53
- MetaLR 0.40
- MetaSVM -0.35
- PolyPhen-2 1.00
- SIFT 0.39
- MutPred 0.57
- ClinVar: Pathogenic/Likely pathogenic (not provided; Finnish congenital nephrotic syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)