W10* (p.Trp10Ter) variant of LRP5 (O75197)
W10* (p.Trp10Ter) in LRP5 (O75197) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- Ensembl rs2098589244
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.82
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. (PMID 11719191)