C40R (p.Cys40Arg) variant of LRP2 (P98164)
C40R (p.Cys40Arg) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C40R (p.Cys40Arg) variant details
- p.Cys40Arg
- Ensembl rs1559073963
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available