P33R (p.Pro33Arg) variant of ACADM (P11310)
P33R (p.Pro33Arg) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
P33R (p.Pro33Arg) variant details
- p.Pro33Arg
- rs2100347224
- ClinGen CA340807391
- ClinVar RCV003029946
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.09
- MetaLR 0.56
- MetaSVM -0.01
- PolyPhen-2 0.00
- SIFT 0.21
- MutPred 0.34
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)