A32T (p.Ala32Thr) variant of PCCB (P05166)
A32T (p.Ala32Thr) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs751136139
- ClinGen CA2631572
- cosmic curated COSV10803
- ClinVar RCV001145981
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- ESM-1b 0.17
- AlphaMissense 0.07
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)