G5S (p.Gly5Ser) variant of LDLR (Low-density lipoprotein receptor)
G5S (p.Gly5Ser) 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.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- gnomAD 19-11090610-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0416
- CADD 0.17
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available