C28* (p.Cys28Ter) variant of SORL1 (Sortilin-related receptor)
C28* (p.Cys28Ter) in SORL1 (Sortilin-related receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C28* (p.Cys28Ter) variant details
- p.Cys28Ter
- gnomAD 11-121452415-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available