I100L (p.Ile100Leu) variant of LCAT (P04180)
I100L (p.Ile100Leu) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I100L (p.Ile100Leu) variant details
- p.Ile100Leu
- gnomAD 16-67939943-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.087
- CADD 0.90
- Population evidence available
- Structural context available
- Literature evidence available