G25* (p.Gly25Ter) variant of SORL1 (Sortilin-related receptor)
G25* (p.Gly25Ter) in SORL1 (Sortilin-related receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G25* (p.Gly25Ter) variant details
- p.Gly25Ter
- gnomAD 11-121452404-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available