C53F (p.Cys53Phe) variant of LRP2 (P98164)
C53F (p.Cys53Phe) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C53F (p.Cys53Phe) variant details
- p.Cys53Phe
- gnomAD rs1684890156
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.92
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available