R248T (p.Arg248Thr) variant of ACADM (P11310)
R248T (p.Arg248Thr) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R248T (p.Arg248Thr) variant details
- p.Arg248Thr
- rs1035989817
- ClinGen CA24631579
- ClinVar RCV004527052
- ClinVar RCV006488907
- Uncertain significance
- not specified; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.87
- CADD 24.50
- PolyPhen-2 0.35
- SIFT 0.06
- ClinVar: Uncertain significance (not specified; Medium-chain acyl-coenzyme A dehydrogenase defici)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)