A18G (p.Ala18Gly) variant of PCCB (P05166)
A18G (p.Ala18Gly) 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 0.42 / 1. The record also includes published literature and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- rs769481450
- ClinGen CA354737900
- ClinVar RCV002004928
- ExAC rs769481450
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.77
- MetaSVM 0.16
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)