R115H (p.Arg115His) variant of NPHS1 (Nephrin)
R115H (p.Arg115His) 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 0.46 / 1. The record also includes population frequency data and structural context.
R115H (p.Arg115His) variant details
- p.Arg115His
- ExAC rs768047120
- TOPMed rs768047120
- gnomAD rs768047120
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.30
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available