R11* (p.Arg11Ter) variant of SORL1 (Sortilin-related receptor)
R11* (p.Arg11Ter) in SORL1 (Sortilin-related receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R11* (p.Arg11Ter) variant details
- p.Arg11Ter
- gnomAD 11-121452362-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available