M1R (p.Met1Arg) variant of PCCB (P05166)
M1R (p.Met1Arg) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs398123462
- ClinGen CA354737809
- ClinVar RCV003511578
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)