E43K (p.Glu43Lys) variant of ACADM (P11310)
E43K (p.Glu43Lys) 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; ACADM-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- rs147559466
- ClinGen CA220170
- cosmic curated COSV10592
- ClinVar RCV000077881
- Conflicting interpretations
- Inborn genetic diseases; ACADM-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.74
- CADD 23.90
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; ACADM-related disorder; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.024)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)