G35D (p.Gly35Asp) variant of NPHS2 (Podocin)
G35D (p.Gly35Asp) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of Prednisolone response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G35D (p.Gly35Asp) variant details
- p.Gly35Asp
- rs878853215
- ClinGen CA10581522
- ClinVar RCV000225091
- gnomAD rs878853215
- drug response
- Prednisolone response
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.22
- CADD 5.84
- PolyPhen-2 0.18
- SIFT 0.29
- ClinVar: drug response (Prednisolone response)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available