R148K (p.Arg148Lys) variant of ACADM (P11310)
R148K (p.Arg148Lys) 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 specified; not provided; Medium-chain acyl-coenzyme A dehydrogenase deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R148K (p.Arg148Lys) variant details
- p.Arg148Lys
- rs778906552
- ClinGen CA303029
- ClinVar RCV000179231
- ClinVar RCV000211501
- Pathogenic/Likely pathogenic
- not specified; not provided; Medium-chain acyl-coenzyme A dehydrogenase deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.63
- AlphaMissense 0.54
- MetaLR 0.99
- MetaSVM 1.03
- CADD 25.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not specified; not provided; Medium-chain acyl-coenzyme A dehydr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)