F430S (p.Phe430Ser) variant of HADHB (P55084)
F430S (p.Phe430Ser) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial trifunctional protein deficiency 2; not provided; Mitochondrial tr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
F430S (p.Phe430Ser) variant details
- p.Phe430Ser
- rs375329638
- ClinGen CA1560506
- ClinVar RCV001588141
- ClinVar RCV001882729
- Pathogenic/Likely pathogenic
- Mitochondrial trifunctional protein deficiency 2; not provided; Mitochondrial tr
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial trifunctional protein deficiency 2; not provided;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)