H397N (p.His397Asn) variant of ACAT1 (P24752)
H397N (p.His397Asn) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
H397N (p.His397Asn) variant details
- p.His397Asn
- rs746332363
- ClinGen CA6263401
- ClinVar RCV001931272
- ExAC rs746332363
- Pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.68
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.13
- ClinVar: Pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available