R29L (p.Arg29Leu) variant of LDLR (Low-density lipoprotein receptor)
R29L (p.Arg29Leu) 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.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- gnomAD 19-11090734-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.059
- CADD 2.31
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available