R17C (p.Arg17Cys) variant of ACADM (P11310)
R17C (p.Arg17Cys) in ACADM (P11310) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- rs1389882916
- NCI-TCGA Cosmic COSV6372
- cosmic curated COSV63720
- TOPMed rs1389882916
- Pathogenic/Likely pathogenic
- not specified; not provided; Medium-chain acyl-coenzyme A dehydrogenase deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.37
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (not specified; not provided; Medium-chain acyl-coenzyme A dehydr)
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available