W31* (p.Trp31Ter) variant of SORL1 (Sortilin-related receptor)
W31* (p.Trp31Ter) in SORL1 (Sortilin-related receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
W31* (p.Trp31Ter) variant details
- p.Trp31Ter
- gnomAD 11-121452423-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 37.00
- Most common in the East Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available