R50G (p.Arg50Gly) variant of NPHS2 (Podocin)
R50G (p.Arg50Gly) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- TOPMed rs886045596
- gnomAD rs886045596
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.38
- CADD 9.73
- PolyPhen-2 0.05
- SIFT 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available