E56K (p.Glu56Lys) variant of NPHS2 (Podocin)
E56K (p.Glu56Lys) 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 0.44 / 1. The record also includes population frequency data and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- rs1167223941
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62635
- gnomAD rs1167223941
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.40
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available