E87K (p.Glu87Lys) variant of NPHS2 (Podocin)
E87K (p.Glu87Lys) 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 0.64 / 1. The record also includes population frequency data and structural context.
E87K (p.Glu87Lys) variant details
- p.Glu87Lys
- ExAC rs776016821
- TOPMed rs776016821
- gnomAD rs776016821
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.59
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available