I356T (p.Ile356Thr) variant of ACADM (P11310)
I356T (p.Ile356Thr) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I356T (p.Ile356Thr) variant details
- p.Ile356Thr
- rs2100453278
- ClinGen CA340818099
- ClinVar RCV001880551
- Ensembl rs2100453278
- Pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.95
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)