T56T (p.Thr56Thr) variant of STXBP1 (Syntaxin-binding protein 1)
T56T (p.Thr56Thr) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T56T (p.Thr56Thr) variant details
- p.Thr56Thr
- gnomAD 9-127653795-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 14.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available