G20W (p.Gly20Trp) variant of LDLR (Low-density lipoprotein receptor)
G20W (p.Gly20Trp) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G20W (p.Gly20Trp) variant details
- p.Gly20Trp
- gnomAD 19-11089606-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 20.60
- PolyPhen-2 0.37
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available