D106E (p.Asp106Glu) variant of NPHS1 (Nephrin)
D106E (p.Asp106Glu) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D106E (p.Asp106Glu) variant details
- p.Asp106Glu
- ExAC rs770909581
- TOPMed rs770909581
- gnomAD rs770909581
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.35
- CADD 0.81
- PolyPhen-2 0.92
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available