A153P (p.Ala153Pro) variant of PCCB (P05166)
A153P (p.Ala153Pro) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A153P (p.Ala153Pro) variant details
- p.Ala153Pro
- rs202247819
- ClinGen CA343145
- ClinVar RCV000032133
- UniProt VAR 023850
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Cited in: Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID 15059621)
- Cited in: Propionic Acidemia. (PMID 22593918)