L107S (p.Leu107Ser) variant of ACADM (P11310)
L107S (p.Leu107Ser) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L107S (p.Leu107Ser) variant details
- p.Leu107Ser
- rs746136472
- ClinGen CA245876
- ClinVar RCV000178699
- ClinVar RCV000667388
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)