E29* (p.Glu29Ter) variant of SORL1 (Sortilin-related receptor)
E29* (p.Glu29Ter) in SORL1 (Sortilin-related receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- gnomAD 11-121452416-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available