A438V (p.Ala438Val) variant of PCCB (P05166)
A438V (p.Ala438Val) 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 0.99 / 1. The record also includes published literature and structural context.
A438V (p.Ala438Val) variant details
- p.Ala438Val
- rs2529974111
- ClinGen CA354649295
- ClinVar RCV002651751
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)