L22P (p.Leu22Pro) variant of ACAT1 (P24752)
L22P (p.Leu22Pro) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- TOPMed rs1429772457
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.34
- CADD 19.90
- PolyPhen-2 0.08
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available