A23T (p.Ala23Thr) variant of PCCB (P05166)
A23T (p.Ala23Thr) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs772483250
- ClinGen CA2631565
- ClinVar RCV001893968
- ExAC rs772483250
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0001)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)