R61H (p.Arg61His) variant of HADHB (P55084)
R61H (p.Arg61His) 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 2; Mitochondrial trifunctional pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R61H (p.Arg61His) variant details
- p.Arg61His
- rs121913132
- ClinGen CA341339
- ClinVar RCV000015970
- ClinVar RCV000520375
- Pathogenic/Likely pathogenic
- Mitochondrial trifunctional protein deficiency 2; Mitochondrial trifunctional pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial trifunctional protein deficiency 2; Mitochondrial)
- EBI: Pathogenic (in MTPD2)
- UniProt: Pathogenic (in MTPD2)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)