I78T (p.Ile78Thr) variant of ACADM (P11310)
I78T (p.Ile78Thr) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
I78T (p.Ile78Thr) variant details
- p.Ile78Thr
- rs398123074
- ClinGen CA275237
- ClinVar RCV000077885
- ClinVar RCV000178019
- Pathogenic
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.94
- CADD 25.90
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ… (PMID 11349232)
- Cited in: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 10767181)