A12T (p.Ala12Thr) variant of PCCB (P05166)
A12T (p.Ala12Thr) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- rs1230563587
- ClinGen CA354737860
- ClinVar RCV003083276
- TOPMed rs1230563587
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 9.81
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)