T121I (p.Thr121Ile) variant of ACADM (P11310)
T121I (p.Thr121Ile) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T121I (p.Thr121Ile) variant details
- p.Thr121Ile
- rs121434283
- ClinGen CA252838
- ClinVar RCV000003782
- ClinVar RCV000185674
- Uncertain significance
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.87
- CADD 26.00
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the Middle Eastern population (allele frequency 0.0014)
- 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: Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon… (PMID 17273963)