Q33* (p.Gln33Ter) variant of SORL1 (Sortilin-related receptor)
Q33* (p.Gln33Ter) in SORL1 (Sortilin-related receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- gnomAD 11-121452428-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available