S383L (p.Ser383Leu) variant of HADHB (P55084)
S383L (p.Ser383Leu) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S383L (p.Ser383Leu) variant details
- p.Ser383Leu
- rs144711755
- ClinGen CA1560456
- ClinVar RCV000779321
- 1000Genomes rs144711755
- Likely pathogenic
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.72
- CADD 27.90
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Likely pathogenic (Mitochondrial trifunctional protein deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)