M1I (p.Met1Ile) variant of PCCB (P05166)
M1I (p.Met1Ile) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs398123464
- ClinGen CA221103
- ClinVar RCV000173153
- ClinVar RCV001203595
- Pathogenic/Likely pathogenic
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- ESM-1b 0.11
- AlphaMissense 0.31
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 0.53
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)