D263G (p.Asp263Gly) variant of HADHB (P55084)
D263G (p.Asp263Gly) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mitochondrial trifunctional protein deficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
D263G (p.Asp263Gly) variant details
- p.Asp263Gly
- rs121913131
- ClinGen CA341338
- ClinVar RCV003156214
- UniProt VAR 007495
- Pathogenic
- Mitochondrial trifunctional protein deficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.82
- MetaLR 0.72
- MetaSVM 0.68
- PolyPhen-2 0.26
- SIFT 0.03
- EVE 0.65
- ClinVar: Pathogenic (Mitochondrial trifunctional protein deficiency 2)
- EBI: Pathogenic (in MTPD2)
- UniProt: Pathogenic (in MTPD2)
- Structural context available
- Cited in: Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. (PMID 12754706)
- Cited in: Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (PMID 8163672)