A458T (p.Ala458Thr) variant of PCCB (P05166)
A458T (p.Ala458Thr) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A458T (p.Ala458Thr) variant details
- p.Ala458Thr
- rs542389615
- ClinGen CA2632158
- cosmic curated COSV10438
- ClinVar RCV000278033
- Uncertain significance
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 29.10
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)