G20C (p.Gly20Cys) variant of LDLR (Low-density lipoprotein receptor)
G20C (p.Gly20Cys) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- gnomAD 19-11090655-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 7.24
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available