P355T (p.Pro355Thr) variant of HADHB (P55084)
P355T (p.Pro355Thr) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P355T (p.Pro355Thr) variant details
- p.Pro355Thr
- rs1370999216
- ClinGen CA346095495
- ClinVar RCV002272758
- gnomAD rs1370999216
- Likely pathogenic
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mitochondrial trifunctional protein deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)