A131V (p.Ala131Val) variant of HADHB (P55084)
A131V (p.Ala131Val) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A131V (p.Ala131Val) variant details
- p.Ala131Val
- rs1672558537
- ClinGen CA346092003
- ClinVar RCV001249195
- TOPMed rs1672558537
- Likely pathogenic
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.87
- MetaLR 0.89
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Mitochondrial trifunctional protein deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)