Y161H (p.Tyr161His) variant of ACAT1 (P24752)
Y161H (p.Tyr161His) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar 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 0.73 / 1. The record also includes population frequency data and structural context.
Y161H (p.Tyr161His) variant details
- p.Tyr161His
- gnomAD rs768121096
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.81
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available