R84S (p.Arg84Ser) variant of NPHS1 (Nephrin)
R84S (p.Arg84Ser) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R84S (p.Arg84Ser) variant details
- p.Arg84Ser
- TOPMed rs1168071834
- gnomAD rs1168071834
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.07
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available