L22V (p.Leu22Val) variant of ACAT1 (P24752)
L22V (p.Leu22Val) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- TOPMed rs2077152090
- gnomAD rs2077152090
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.27
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available