P17A (p.Pro17Ala) variant of ACAT1 (P24752)
P17A (p.Pro17Ala) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- 1000Genomes rs573208198
- TOPMed rs573208198
- gnomAD rs573208198
- Uncertain significance
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.29
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available