P25L (p.Pro25Leu) variant of HADHB (P55084)
P25L (p.Pro25Leu) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs1434038212
- ClinGen CA346101421
- ClinVar RCV001949042
- TOPMed rs1434038212
- Uncertain significance
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.36
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (Mitochondrial trifunctional protein deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)