C53Y (p.Cys53Tyr) variant of LRP2 (P98164)
C53Y (p.Cys53Tyr) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
C53Y (p.Cys53Tyr) variant details
- p.Cys53Tyr
- rs1684890156
- ClinGen CA349174603
- ClinVar RCV002299052
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available