R17H (p.Arg17His) variant of ACADM (P11310)
R17H (p.Arg17His) 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; not provided; Medium-chain acyl-coenzyme A dehydrogenas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- rs17848070
- ClinGen CA912933
- cosmic curated COSV63721
- ClinVar RCV000211437
- Conflicting interpretations
- Inborn genetic diseases; not provided; Medium-chain acyl-coenzyme A dehydrogenas
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.30
- CADD 6.95
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Conflicting classifications of pathogenicity (Medium-chain acyl-coenzyme A dehydrogenase deficiency; not provi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)