H397D (p.His397Asp) variant of ACAT1 (P24752)
H397D (p.His397Asp) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
H397D (p.His397Asp) variant details
- p.His397Asp
- rs746332363
- ClinGen CA382508741
- ClinVar RCV000844842
- ExAC rs746332363
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.88
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available