R29Q (p.Arg29Gln) variant of LDLR (Low-density lipoprotein receptor)
R29Q (p.Arg29Gln) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- rs1273886653
- gnomAD 19-11090749-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0646
- CADD 2.85
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available