V38F (p.Val38Phe) variant of HADHB (P55084)
V38F (p.Val38Phe) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V38F (p.Val38Phe) variant details
- p.Val38Phe
- rs553040477
- ClinGen CA1560099
- ClinVar RCV002756126
- 1000Genomes rs553040477
- Uncertain significance
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.23
- CADD 9.81
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (Mitochondrial trifunctional protein deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)