G33D (p.Gly33Asp) variant of NPHS1 (Nephrin)
G33D (p.Gly33Asp) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G33D (p.Gly33Asp) variant details
- p.Gly33Asp
- TOPMed rs1311434081
- gnomAD rs1311434081
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.08
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available