G301R (p.Gly301Arg) variant of HADHB (P55084)
G301R (p.Gly301Arg) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G301R (p.Gly301Arg) variant details
- p.Gly301Arg
- rs891954464
- ClinGen CA346093903
- ClinVar RCV000662022
- TOPMed rs891954464
- Likely pathogenic
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Mitochondrial trifunctional protein deficiency)
- EBI: Likely pathogenic (in MTPD2)
- UniProt: Likely pathogenic (in MTPD2)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)