R33Q (p.Arg33Gln) variant of HADHB (P55084)
R33Q (p.Arg33Gln) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs372980146
- ClinGen CA1560085
- cosmic curated COSV58545
- ClinVar RCV001863809
- Uncertain significance
- not provided; Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.16
- CADD 4.02
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Mitochondrial trifunctional protein deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)