L16M (p.Leu16Met) variant of LDLR (Low-density lipoprotein receptor)
L16M (p.Leu16Met) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- gnomAD 19-11090703-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 4.52
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available