I26V (p.Ile26Val) variant of ACAT1 (P24752)
I26V (p.Ile26Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- rs1352801361
- ClinGen CA382506096
- ClinVar RCV002914237
- TOPMed rs1352801361
- Uncertain significance
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.19
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available