M1V (p.Met1Val) variant of ACADM (P11310)
M1V (p.Met1Val) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1057516778
- ClinGen CA16040771
- ClinVar RCV000411404
- ClinVar RCV000767337
- Likely benign
- Medium-chain acyl-coenzyme A dehydrogenase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- MetaLR 0.63
- MetaSVM -0.04
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely benign (Medium-chain acyl-coenzyme A dehydrogenase deficiency; Inborn ge)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)