E2D (p.Glu2Asp) variant of NPHS2 (Podocin)
E2D (p.Glu2Asp) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- ExAC rs766878036
- gnomAD rs766878036
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.36
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available