Q31E (p.Gln31Glu) variant of HADHB (P55084)
Q31E (p.Gln31Glu) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q31E (p.Gln31Glu) variant details
- p.Gln31Glu
- rs764825824
- ClinGen CA1560081
- ClinVar RCV003064886
- ExAC rs764825824
- Uncertain significance
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.32
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Uncertain significance (Mitochondrial trifunctional protein deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)