C28R (p.Cys28Arg) variant of LRP2 (P98164)
C28R (p.Cys28Arg) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C28R (p.Cys28Arg) variant details
- p.Cys28Arg
- gnomAD rs1161067807
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available