N194K (p.Asn194Lys) variant of ACADM (P11310)
N194K (p.Asn194Lys) 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 0.60 / 1. The record also includes population frequency data and structural context.
N194K (p.Asn194Lys) variant details
- p.Asn194Lys
- 1000Genomes rs778535261
- ExAC rs778535261
- TOPMed rs778535261
- gnomAD rs778535261
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.86
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available