F32L (p.Phe32Leu) variant of LDLR (Low-density lipoprotein receptor)
F32L (p.Phe32Leu) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- gnomAD 19-11090627-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0985
- CADD 7.17
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available