W10G (p.Trp10Gly) variant of LDLR (Low-density lipoprotein receptor)
W10G (p.Trp10Gly) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
W10G (p.Trp10Gly) variant details
- p.Trp10Gly
- gnomAD 19-11089574-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 24.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available