E87Q (p.Glu87Gln) variant of NPHS2 (Podocin)
E87Q (p.Glu87Gln) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E87Q (p.Glu87Gln) variant details
- p.Glu87Gln
- ExAC rs776016821
- TOPMed rs776016821
- gnomAD rs776016821
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.47
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.09
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available