Q143E (p.Gln143Glu) variant of HADHB (P55084)
Q143E (p.Gln143Glu) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q143E (p.Gln143Glu) variant details
- p.Gln143Glu
- rs200718690
- ClinGen CA346092073
- ClinVar RCV001249196
- ExAC rs200718690
- Likely pathogenic
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.71
- CADD 24.70
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Likely pathogenic (Mitochondrial trifunctional protein deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)