A106E (p.Ala106Glu) variant of PCCA (P05165)
A106E (p.Ala106Glu) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Propionic acidemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A106E (p.Ala106Glu) variant details
- p.Ala106Glu
- rs765468519
- ClinGen CA7033190
- ClinVar RCV003120419
- ClinVar RCV003479500
- Pathogenic/Likely pathogenic
- Propionic acidemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)