Y352C (p.Tyr352Cys) variant of ACADM (P11310)
Y352C (p.Tyr352Cys) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y352C (p.Tyr352Cys) variant details
- p.Tyr352Cys
- rs1227800781
- ClinGen CA340818073
- ClinVar RCV000508385
- ClinVar RCV001378636
- Pathogenic/Likely pathogenic
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.86
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is… (PMID 9158144)
- Cited in: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 10767181)