P17L (p.Pro17Leu) variant of ACAT1 (P24752)
P17L (p.Pro17Leu) 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, published literature, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- gnomAD 11-108121656-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.32
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available