A454V (p.Ala454Val) variant of PCCB (P05166)
A454V (p.Ala454Val) 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 0.87 / 1. The record also includes population frequency data and structural context.
A454V (p.Ala454Val) variant details
- p.Ala454Val
- gnomAD rs1935375887
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.97
- MetaSVM 1.07
- CADD 27.60
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available