E45D (p.Glu45Asp) variant of NPHS1 (Nephrin)
E45D (p.Glu45Asp) 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 0.19 / 1. The record also includes population frequency data and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- ExAC rs757545314
- gnomAD rs757545314
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.16
- CADD 14.90
- PolyPhen-2 0.53
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available