T351I (p.Thr351Ile) variant of ACADM (P11310)
T351I (p.Thr351Ile) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ACADM-related disorder; not provided; Medium-chain acyl-coenzyme A dehydrogenase. 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.
T351I (p.Thr351Ile) variant details
- p.Thr351Ile
- rs766140986
- ClinGen CA312184
- ClinVar RCV000185667
- ClinVar RCV001000199
- Pathogenic/Likely pathogenic
- ACADM-related disorder; not provided; Medium-chain acyl-coenzyme A dehydrogenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.89
- CADD 25.20
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ACADM-related disorder; not provided; Medium-chain acyl-coenzyme)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)