M437T (p.Met437Thr) variant of ACADVL (P49748)
M437T (p.Met437Thr) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency; Abnormality of the musculatur. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
M437T (p.Met437Thr) variant details
- p.Met437Thr
- rs2071345821
- ClinGen CA397724838
- ClinVar RCV001075887
- ClinVar RCV001200727
- Pathogenic/Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency; Abnormality of the musculatur
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.94
- CADD 23.90
- PolyPhen-2 0.41
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency; Abnormality o)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)