N114D (p.Asn114Asp) variant of HADHB (P55084)
N114D (p.Asn114Asp) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N114D (p.Asn114Asp) variant details
- p.Asn114Asp
- rs773157876
- ClinGen CA1560180
- ClinVar RCV004574036
- ClinVar RCV004765846
- Pathogenic/Likely pathogenic
- Mitochondrial trifunctional protein deficiency 1; Mitochondrial trifunctional pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.89
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial trifunctional protein deficiency 1; Mitochondrial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)