M87T (p.Met87Thr) variant of ACADM (P11310)
M87T (p.Met87Thr) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
M87T (p.Met87Thr) variant details
- p.Met87Thr
- rs767649048
- ClinGen CA913007
- ClinVar RCV001953444
- ExAC rs767649048
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 0.56
- MetaLR 0.94
- MetaSVM 1.18
- PolyPhen-2 0.01
- SIFT 0.08
- EVE 0.19
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)