M6T (p.Met6Thr) variant of ACADVL (P49748)
M6T (p.Met6Thr) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M6T (p.Met6Thr) variant details
- p.Met6Thr
- rs1165009307
- ClinGen CA397721922
- ClinVar RCV002786005
- TOPMed rs1165009307
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.14
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)