A392V (p.Ala392Val) variant of HADHB (P55084)
A392V (p.Ala392Val) 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. 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.
A392V (p.Ala392Val) variant details
- p.Ala392Val
- rs764623179
- ClinGen CA346844
- ClinVar RCV000170518
- ClinVar RCV003156229
- Pathogenic
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- CADD 27.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (Mitochondrial trifunctional protein deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset… (PMID 24664533)
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)