W97* (p.Trp97Ter) variant of SHANK1 (Q9Y566)
W97* (p.Trp97Ter) in SHANK1 (Q9Y566) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W97* (p.Trp97Ter) variant details
- p.Trp97Ter
- gnomAD rs2089070501
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 37.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available