P132R (p.Pro132Arg) variant of ACADM (P11310)
P132R (p.Pro132Arg) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P132R (p.Pro132Arg) variant details
- p.Pro132Arg
- rs875989854
- ClinGen CA10576227
- cosmic curated COSV63720
- ClinVar RCV000211545
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.95
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Likely pathogenic (in a breast cancer sample)
- UniProt: Likely pathogenic (in a breast cancer sample)
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)