E79K (p.Glu79Lys) variant of NPHS2 (Podocin)
E79K (p.Glu79Lys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E79K (p.Glu79Lys) variant details
- p.Glu79Lys
- ExAC rs772773926
- TOPMed rs772773926
- gnomAD rs772773926
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.64
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available