E50D (p.Glu50Asp) variant of NPHS1 (Nephrin)
E50D (p.Glu50Asp) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- ExAC rs760073893
- gnomAD rs760073893
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.04
- CADD 11.70
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available