S245L (p.Ser245Leu) variant of ACADM (P11310)
S245L (p.Ser245Leu) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S245L (p.Ser245Leu) variant details
- p.Ser245Leu
- rs121434281
- ClinGen CA220186
- ClinVar RCV000003781
- ClinVar RCV000077894
- Pathogenic/Likely pathogenic
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.97
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Molecular and functional characterisation of mild MCAD deficiency. (PMID 11409868)
- Cited in: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 10767181)