N114S (p.Asn114Ser) variant of HADHB (P55084)
N114S (p.Asn114Ser) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N114S (p.Asn114Ser) variant details
- p.Asn114Ser
- rs146328300
- ClinGen CA1560181
- ClinVar RCV002994915
- ClinVar RCV003333230
- Conflicting interpretations
- Mitochondrial trifunctional protein deficiency 2; Mitochondrial trifunctional pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.81
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial trifunctional protein deficiency 2; Mitochondrial)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)