R26C (p.Arg26Cys) variant of LDLR (Low-density lipoprotein receptor)
R26C (p.Arg26Cys) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R26C (p.Arg26Cys) variant details
- p.Arg26Cys
- gnomAD 19-11090667-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 6.71
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available