A320T (p.Ala320Thr) variant of PCCA (P05165)
A320T (p.Ala320Thr) in PCCA (P05165) 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 0.90 / 1. The record also includes published literature and structural context.
A320T (p.Ala320Thr) variant details
- p.Ala320Thr
- rs1434912184
- ClinGen CA388694761
- ClinVar RCV001919202
- gnomAD rs1434912184
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)