R26H (p.Arg26His) variant of LDLR (Low-density lipoprotein receptor)
R26H (p.Arg26His) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R26H (p.Arg26His) variant details
- p.Arg26His
- rs576530433
- gnomAD 19-11090668-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0464
- CADD 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available