G55R (p.Gly55Arg) variant of NPHS2 (Podocin)
G55R (p.Gly55Arg) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar 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 0.23 / 1. The record also includes population frequency data and structural context.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- TOPMed rs1409794630
- gnomAD rs1409794630
- Uncertain significance
- Nephrotic syndrome, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.22
- CADD 5.81
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Nephrotic syndrome, type 2)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available