L18Q (p.Leu18Gln) variant of ACAT1 (P24752)
L18Q (p.Leu18Gln) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- gnomAD 11-108121659-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.42
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available