V455G (p.Val455Gly) variant of HADHB (P55084)
V455G (p.Val455Gly) 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 2; not provided; Mitochondrial tr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V455G (p.Val455Gly) variant details
- p.Val455Gly
- rs267606859
- ClinGen CA341344
- ClinVar RCV000015974
- ClinVar RCV003125832
- Pathogenic
- Mitochondrial trifunctional protein deficiency 2; not provided; Mitochondrial tr
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Pathogenic (Mitochondrial trifunctional protein deficiency 2; not provided;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency. (PMID 19699128)
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)