R247H (p.Arg247His) variant of HADHB (P55084)
R247H (p.Arg247His) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial trifunctional protein deficiency 1; not provided; Mitochondrial tr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R247H (p.Arg247His) variant details
- p.Arg247His
- rs121913133
- ClinGen CA341340
- ClinVar RCV000481427
- ClinVar RCV003156216
- Pathogenic/Likely pathogenic
- Mitochondrial trifunctional protein deficiency 1; not provided; Mitochondrial tr
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.82
- CADD 25.20
- PolyPhen-2 0.16
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial trifunctional protein deficiency 1; not provided;)
- EBI: Pathogenic (in MTPD2)
- UniProt: Pathogenic (in MTPD2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. (PMID 12754706)
- Cited in: Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is… (PMID 8651282)