N389D (p.Asn389Asp) variant of HADHB (P55084)
N389D (p.Asn389Asp) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial trifunctional protein deficiency 1; Mitochondrial trifunctional pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
N389D (p.Asn389Asp) variant details
- p.Asn389Asp
- rs1023807527
- ClinGen CA44342258
- ClinVar RCV002254007
- ClinVar RCV004572091
- Pathogenic/Likely pathogenic
- Mitochondrial trifunctional protein deficiency 1; Mitochondrial trifunctional pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.94
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial trifunctional protein deficiency 1; Mitochondrial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)