G301S (p.Gly301Ser) variant of HADHB (P55084)
G301S (p.Gly301Ser) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mitochondrial trifunctional protein deficiency 2; Mitochondrial trifunctional pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G301S (p.Gly301Ser) variant details
- p.Gly301Ser
- rs891954464
- ClinGen CA44337398
- ClinVar RCV001883445
- ClinVar RCV005023353
- Conflicting interpretations
- Mitochondrial trifunctional protein deficiency 2; Mitochondrial trifunctional pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- CADD 29.30
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial trifunctional protein deficiency 2; Mitochondrial)
- EBI: Pathogenic (in MTPD2)
- UniProt: Pathogenic (in MTPD2)
- Most common in the East Asian population (allele frequency 2.5e-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)