T220I (p.Thr220Ile) variant of ACADM (P11310)
T220I (p.Thr220Ile) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T220I (p.Thr220Ile) variant details
- p.Thr220Ile
- rs766249735
- ClinGen CA913167
- ClinVar RCV000359924
- ClinVar RCV002518867
- Conflicting interpretations
- MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing n
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.89
- AlphaMissense 0.76
- MetaLR 0.96
- MetaSVM 1.13
- CADD 23.70
- PolyPhen-2 0.96
- ClinVar: Conflicting classifications of pathogenicity (MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full AC)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)