Q39* (p.Gln39Ter) variant of TULP1 (Tubby-related protein 1)
Q39* (p.Gln39Ter) in TULP1 (Tubby-related protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Q39* (p.Gln39Ter) variant details
- p.Gln39Ter
- Ensembl rs1561818754
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.825
- CADD 37.00
- Population evidence available
- Structural context available