A458V (p.Ala458Val) variant of PCCB (P05166)
A458V (p.Ala458Val) 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 0.92 / 1. The record also includes published literature and structural context.
A458V (p.Ala458Val) variant details
- p.Ala458Val
- rs1576360976
- ClinGen CA354649448
- ClinVar RCV000790507
- ClinVar RCV005438034
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)