E56G (p.Glu56Gly) variant of NPHS2 (Podocin)
E56G (p.Glu56Gly) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E56G (p.Glu56Gly) variant details
- p.Glu56Gly
- rs749680357
- ClinGen CA1267306
- ClinVar RCV001757813
- ExAC rs749680357
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.07
- MetaLR 0.95
- MetaSVM 1.16
- PolyPhen-2 0.05
- SIFT 0.00
- EVE 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available