A215N (p.Ala215Asn) variant of ACAT1 (P24752)
A215N (p.Ala215Asn) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The record also includes structural context.
A215N (p.Ala215Asn) variant details
- p.Ala215Asn
- rs1591368794
- ClinGen CA915947692
- ClinVar RCV000844799
- Ensembl rs1591368794
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available