S390P (p.Ser390Pro) variant of ACAT1 (P24752)
S390P (p.Ser390Pro) 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 0.84 / 1. The record also includes population frequency data and structural context.
S390P (p.Ser390Pro) variant details
- p.Ser390Pro
- rs1184088336
- ClinGen CA382508700
- ClinVar RCV000844841
- Ensembl rs1184088336
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.98
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available