T42I (p.Thr42Ile) variant of ACADM (P11310)
T42I (p.Thr42Ile) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T42I (p.Thr42Ile) variant details
- p.Thr42Ile
- rs759997176
- ClinGen CA912969
- ClinVar RCV000366127
- ClinVar RCV001313550
- Uncertain significance
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.79
- CADD 22.40
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)