W6F (p.Trp6Phe) variant of LDLR (Low-density lipoprotein receptor)
W6F (p.Trp6Phe) in LDLR (Low-density lipoprotein receptor) is a protein-truncating 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.
W6F (p.Trp6Phe) variant details
- p.Trp6Phe
- rs774615547
- gnomAD 19-11089562-G-GCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically. (PMID 27765764)