M155T (p.Met155Thr) variant of ACADM (P11310)
M155T (p.Met155Thr) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
M155T (p.Met155Thr) variant details
- p.Met155Thr
- rs875989876
- ClinGen CA10576228
- ClinVar RCV000211471
- ClinVar RCV001824301
- Pathogenic/Likely pathogenic
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.79
- CADD 23.80
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)