L16F (p.Leu16Phe) variant of LDLR (Low-density lipoprotein receptor)
L16F (p.Leu16Phe) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- gnomAD 19-11089594-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available