I375T (p.Ile375Thr) variant of ACADM (P11310)
I375T (p.Ile375Thr) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
I375T (p.Ile375Thr) variant details
- p.Ile375Thr
- rs121434275
- ClinGen CA252826
- ClinVar RCV000003772
- UniProt VAR 000327
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.93
- CADD 25.90
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the… (PMID 1684086)
- Cited in: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 10767181)