P130L (p.Pro130Leu) variant of HADHB (P55084)
P130L (p.Pro130Leu) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P130L (p.Pro130Leu) variant details
- p.Pro130Leu
- rs907003380
- ClinGen CA44334006
- ClinVar RCV003121553
- TOPMed rs907003380
- Likely pathogenic
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.95
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mitochondrial trifunctional protein deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)