L11P (p.Leu11Pro) variant of HADHB (P55084)
L11P (p.Leu11Pro) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs973465081
- ClinGen CA44371778
- ClinVar RCV003849663
- TOPMed rs973465081
- Uncertain significance
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.62
- CADD 23.90
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Uncertain significance (Mitochondrial trifunctional protein deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)