L5* (p.Leu5Ter) variant of PCCB (P05166)
L5* (p.Leu5Ter) in PCCB (P05166) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
L5* (p.Leu5Ter) variant details
- p.Leu5Ter
- rs1292452485
- ClinGen CA354737829
- ClinVar RCV000672023
- gnomAD rs1292452485
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.11
- MetaLR 0.81
- MetaSVM 0.27
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.41
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)