T428I (p.Thr428Ile) variant of PCCB (P05166)
T428I (p.Thr428Ile) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T428I (p.Thr428Ile) variant details
- p.Thr428Ile
- rs111033542
- ClinGen CA341174
- ClinVar RCV000012796
- UniProt VAR 009084
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 27.90
- 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 0.00015)
- Structural context available
- Cited in: Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and… (PMID 12189489)
- Cited in: Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID 15059621)