R29H (p.Arg29His) variant of LDLR (Low-density lipoprotein receptor)
R29H (p.Arg29His) 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.
R29H (p.Arg29His) variant details
- p.Arg29His
- gnomAD 19-11090734-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0631
- CADD 2.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available