R84C (p.Arg84Cys) variant of NPHS1 (Nephrin)
R84C (p.Arg84Cys) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R84C (p.Arg84Cys) variant details
- p.Arg84Cys
- rs1168071834
- ClinGen CA405411344
- ClinVar RCV001342337
- ClinVar RCV001831084
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- CADD 25.50
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)