L8P (p.Leu8Pro) variant of ACAT1 (P24752)
L8P (p.Leu8Pro) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- gnomAD 11-108121629-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.56
- CADD 23.60
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available