M1V (p.Met1Val) variant of HADHB (P55084)
M1V (p.Met1Val) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs763333945
- ClinGen CA1560046
- ClinVar RCV000485249
- ClinVar RCV003766657
- Pathogenic
- not provided; Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- MetaLR 0.85
- MetaSVM 0.70
- PolyPhen-2 0.45
- SIFT 0.38
- MutPred 0.88
- ClinVar: Pathogenic (not provided; Mitochondrial trifunctional protein deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)