E44K (p.Glu44Lys) variant of NPHS2 (Podocin)
E44K (p.Glu44Lys) 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 0.22 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- ExAC rs759402903
- TOPMed rs759402903
- gnomAD rs759402903
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.23
- CADD 7.58
- PolyPhen-2 0.02
- SIFT 0.32
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 8.8e-05)
- Structural context available