S22C (p.Ser22Cys) variant of HADHB (P55084)
S22C (p.Ser22Cys) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- rs1671530038
- ClinGen CA346101339
- ClinVar RCV001317759
- TOPMed rs1671530038
- Uncertain significance
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.27
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Mitochondrial trifunctional protein deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)