R247C (p.Arg247Cys) variant of HADHB (P55084)
R247C (p.Arg247Cys) 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; Mitochondrial trifunctional prot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R247C (p.Arg247Cys) variant details
- p.Arg247Cys
- rs755064267
- ClinGen CA1560324
- ClinVar RCV003392990
- ClinVar RCV003509819
- Pathogenic
- Mitochondrial trifunctional protein deficiency; Mitochondrial trifunctional prot
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.79
- CADD 24.60
- PolyPhen-2 0.16
- SIFT 0.02
- ClinVar: Pathogenic (Mitochondrial trifunctional protein deficiency; Mitochondrial tr)
- EBI: Pathogenic (in MTPD2)
- UniProt: Pathogenic (in MTPD2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)