A138T (p.Ala138Thr) variant of PCCA (P05165)
A138T (p.Ala138Thr) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A138T (p.Ala138Thr) variant details
- p.Ala138Thr
- rs202247814
- ClinGen CA343123
- ClinVar RCV000032110
- UniProt VAR 009089
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-1)
- UniProt: Pathogenic (in PA-1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel… (PMID 10101253)
- Cited in: Propionic Acidemia. (PMID 22593918)