P294R (p.Pro294Arg) variant of HADHB (P55084)
P294R (p.Pro294Arg) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of HADHA-related disorder; Mitochondrial trifunctional protein deficiency. 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.
P294R (p.Pro294Arg) variant details
- p.Pro294Arg
- rs1558357879
- ClinGen CA346093850
- ClinVar RCV000779320
- ClinVar RCV003465712
- Pathogenic/Likely pathogenic
- HADHA-related disorder; Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (HADHA-related disorder; Mitochondrial trifunctional protein defi)
- EBI: Pathogenic (in MTPD2)
- UniProt: Pathogenic (in MTPD2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. (PMID 12754706)
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)