R100C (p.Arg100Cys) variant of LRP2 (P98164)
R100C (p.Arg100Cys) in LRP2 (P98164) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R100C (p.Arg100Cys) variant details
- p.Arg100Cys
- cosmic curated COSV55540
- ESP rs138682237
- ExAC rs138682237
- TOPMed rs138682237
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available