A127V (p.Ala127Val) variant of ACAT1 (P24752)
A127V (p.Ala127Val) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- rs1591363760
- ClinGen CA382506775
- ClinVar RCV000844784
- TOPMed rs1591363760
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.90
- CADD 33.00
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available