G11S (p.Gly11Ser) variant of ACAT1 (P24752)
G11S (p.Gly11Ser) 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 0.22 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- rs928949283
- ClinGen CA228390227
- ClinVar RCV003067171
- gnomAD rs928949283
- Uncertain significance
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.20
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available