A314P (p.Ala314Pro) variant of ACAT1 (P24752)
A314P (p.Ala314Pro) 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 0.80 / 1. The record also includes population frequency data and structural context.
A314P (p.Ala314Pro) variant details
- p.Ala314Pro
- ExAC rs781364671
- TOPMed rs781364671
- gnomAD rs781364671
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.75
- CADD 33.00
- PolyPhen-2 0.93
- SIFT 0.05
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available