L16I (p.Leu16Ile) variant of LDLR (Low-density lipoprotein receptor)
L16I (p.Leu16Ile) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- gnomAD 19-11089594-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 8.93
- PolyPhen-2 0.01
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available