T193A (p.Thr193Ala) variant of ACADM (P11310)
T193A (p.Thr193Ala) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.92 / 1. The record also includes published literature and structural context.
T193A (p.Thr193Ala) variant details
- p.Thr193Ala
- rs121434279
- ClinGen CA252832
- NCI-TCGA Cosmic COSV5771
- ClinVar RCV000003778
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Structural context available
- Cited in: The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is… (PMID 9158144)
- Cited in: Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation… (PMID 9882619)