Q73P (p.Gln73Pro) variant of ACAT1 (P24752)
Q73P (p.Gln73Pro) 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 population frequency data and structural context.
Q73P (p.Gln73Pro) variant details
- p.Gln73Pro
- rs779758622
- ClinGen CA6263038
- ClinVar RCV000844774
- ExAC rs779758622
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.85
- CADD 25.00
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available