A2E (p.Ala2Glu) variant of PCCB (P05166)
A2E (p.Ala2Glu) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- rs748003396
- ClinGen CA354737815
- ClinVar RCV003088332
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)