G5R (p.Gly5Arg) variant of LDLR (Low-density lipoprotein receptor)
G5R (p.Gly5Arg) 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.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- rs1474228297
- gnomAD 19-11090610-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0414
- CADD 0.14
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available