E108D (p.Glu108Asp) variant of NPHS1 (Nephrin)
E108D (p.Glu108Asp) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
E108D (p.Glu108Asp) variant details
- p.Glu108Asp
- Ensembl rs1599847618
- Missense
- Variant Prioritization Score for Impact Estimate 0.0789
- REVEL 0.02
- CADD 12.60
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available