G35V (p.Gly35Val) variant of NPHS2 (Podocin)
G35V (p.Gly35Val) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrotic syndrome, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- gnomAD rs878853215
- Uncertain significance
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.24
- CADD 5.42
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available