L4V (p.Leu4Val) variant of ACAT1 (P24752)
L4V (p.Leu4Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- rs774524997
- ClinGen CA382505494
- ClinVar RCV001559199
- ExAC rs774524997
- Uncertain significance
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.18
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available