H397R (p.His397Arg) variant of ACAT1 (P24752)
H397R (p.His397Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
H397R (p.His397Arg) variant details
- p.His397Arg
- rs2134797745
- ClinGen CA382508745
- ClinVar RCV001378187
- Ensembl rs2134797745
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.55
- MetaLR 0.82
- MetaSVM 0.80
- PolyPhen-2 0.97
- SIFT 0.04
- EVE 0.40
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available