Y352D (p.Tyr352Asp) variant of ACADM (P11310)
Y352D (p.Tyr352Asp) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y352D (p.Tyr352Asp) variant details
- p.Tyr352Asp
- rs1557466834
- ClinGen CA340818071
- ClinVar RCV000728881
- ClinVar RCV001379148
- Conflicting interpretations
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.87
- CADD 27.40
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Likely pathogenic (in ACADMD)
- UniProt: Likely pathogenic (in ACADMD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)