A434V (p.Ala434Val) variant of PCCB (P05166)
A434V (p.Ala434Val) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
A434V (p.Ala434Val) variant details
- p.Ala434Val
- rs751538672
- ClinGen CA2632146
- ClinVar RCV000670133
- ExAC rs751538672
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)