C120R (p.Cys120Arg) variant of LRP2 (P98164)
C120R (p.Cys120Arg) 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.
C120R (p.Cys120Arg) variant details
- p.Cys120Arg
- ExAC rs746387870
- gnomAD rs746387870
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available