Q58* (p.Gln58Ter) variant of SHANK1 (Q9Y566)
Q58* (p.Gln58Ter) in SHANK1 (Q9Y566) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- gnomAD rs1411968026
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.839
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available