P3T (p.Pro3Thr) variant of STXBP1 (Syntaxin-binding protein 1)
P3T (p.Pro3Thr) in STXBP1 (Syntaxin-binding protein 1) is a missense 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.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- gnomAD 9-127612410-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.26
- CADD 22.80
- PolyPhen-2 0.52
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available