V107M (p.Val107Met) variant of PCCB (P05166)
V107M (p.Val107Met) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
V107M (p.Val107Met) variant details
- p.Val107Met
- rs1553774114
- ClinGen CA354738674
- ClinVar RCV000671409
- UniProt VAR 023848
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PMID 12559849)
- Cited in: Propionic Acidemia. (PMID 22593918)