E404K (p.Glu404Lys) variant of PCCB (P05166)
E404K (p.Glu404Lys) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E404K (p.Glu404Lys) variant details
- p.Glu404Lys
- rs777027944
- ClinGen CA2632093
- ClinVar RCV000235547
- ExAC rs777027944
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)