L18V (p.Leu18Val) variant of ACAT1 (P24752)
L18V (p.Leu18Val) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- TOPMed rs1462454471
- gnomAD rs1462454471
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.22
- CADD 15.60
- PolyPhen-2 0.03
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available