G35S (p.Gly35Ser) variant of NPHS2 (Podocin)
G35S (p.Gly35Ser) 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 0.20 / 1. The record also includes population frequency data and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- ExAC rs746606967
- TOPMed rs746606967
- gnomAD rs746606967
- Uncertain significance
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.24
- CADD 1.97
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available