V289F (p.Val289Phe) variant of ACADM (P11310)
V289F (p.Val289Phe) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
V289F (p.Val289Phe) variant details
- p.Val289Phe
- rs1648137997
- ClinGen CA340816957
- ClinVar RCV001227536
- Ensembl rs1648137997
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.89
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)