E30D (p.Glu30Asp) variant of NPHS2 (Podocin)
E30D (p.Glu30Asp) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in NPHS2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- TOPMed rs1234623184
- gnomAD rs1234623184
- Likely benign
- in NPHS2
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.40
- CADD 5.98
- PolyPhen-2 0.00
- SIFT 0.39
- EBI: Likely benign (in NPHS2)
- UniProt: Likely benign (in NPHS2)
- Population evidence available
- Structural context available