G2W (p.Gly2Trp) variant of LDLR (Low-density lipoprotein receptor)
G2W (p.Gly2Trp) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G2W (p.Gly2Trp) variant details
- p.Gly2Trp
- gnomAD 19-11090601-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 4.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available