R61C (p.Arg61Cys) variant of HADHB (P55084)
R61C (p.Arg61Cys) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Mitochondrial trifunctional protein deficiency 1; Mitochondrial tr. 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.
R61C (p.Arg61Cys) variant details
- p.Arg61Cys
- rs780351691
- ClinGen CA1560109
- NCI-TCGA Cosmic COSV5854
- cosmic curated COSV58546
- Pathogenic/Likely pathogenic
- not provided; Mitochondrial trifunctional protein deficiency 1; Mitochondrial tr
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Mitochondrial trifunctional protein deficiency 1;)
- EBI: Pathogenic (in MTPD2)
- UniProt: Pathogenic (in MTPD2)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)