R9H (p.Arg9His) variant of LDLR (Low-density lipoprotein receptor)
R9H (p.Arg9His) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- TOPMed rs1004937473
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 22.80
- PolyPhen-2 0.78
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available