R29Q (p.Arg29Gln) variant of ACADM (P11310)
R29Q (p.Arg29Gln) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- rs769906625
- NCI-TCGA Cosmic COSV6372
- cosmic curated COSV63720
- ExAC rs769906625
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.34
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available