S10* (p.Ser10Ter) variant of SORL1 (Sortilin-related receptor)
S10* (p.Ser10Ter) in SORL1 (Sortilin-related receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S10* (p.Ser10Ter) variant details
- p.Ser10Ter
- gnomAD 11-121452360-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available