G5C (p.Gly5Cys) variant of LDLR (Low-density lipoprotein receptor)
G5C (p.Gly5Cys) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- rs1474228297
- gnomAD 19-11090610-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0413
- CADD 0.13
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available