M300V (p.Met300Val) variant of ACADVL (P49748)
M300V (p.Met300Val) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M300V (p.Met300Val) variant details
- p.Met300Val
- rs1026112888
- ClinGen CA287437521
- ClinVar RCV000665146
- ClinVar RCV004526736
- Conflicting interpretations
- not specified; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.95
- CADD 25.50
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)