R84H (p.Arg84His) variant of NPHS1 (Nephrin)
R84H (p.Arg84His) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
R84H (p.Arg84His) variant details
- p.Arg84His
- TOPMed rs959393189
- gnomAD rs959393189
- Missense
- Variant Prioritization Score for Impact Estimate 0.0542
- REVEL 0.05
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available