R31C (p.Arg31Cys) variant of ACADM (P11310)
R31C (p.Arg31Cys) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- rs768452911
- ClinGen CA912940
- ClinVar RCV003065785
- ClinVar RCV003071772
- Conflicting interpretations
- Inborn genetic diseases; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.35
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Medium-chain acyl-coenzyme A dehydrogen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)