N194S (p.Asn194Ser) variant of ACADM (P11310)
N194S (p.Asn194Ser) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N194S (p.Asn194Ser) variant details
- p.Asn194Ser
- rs1010454733
- ClinGen CA24627682
- cosmic curated COSV10027
- ClinVar RCV001203427
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.93
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)