Y219H (p.Tyr219His) variant of ACAT1 (P24752)
Y219H (p.Tyr219His) 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 0.82 / 1. The record also includes population frequency data and structural context.
Y219H (p.Tyr219His) variant details
- p.Tyr219His
- rs1437567292
- ClinGen CA382507537
- ClinVar RCV000844798
- gnomAD rs1437567292
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.95
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available