S43A (p.Ser43Ala) variant of STXBP1 (Syntaxin-binding protein 1)
S43A (p.Ser43Ala) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S43A (p.Ser43Ala) variant details
- p.Ser43Ala
- gnomAD 9-127653754-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.44
- CADD 22.70
- PolyPhen-2 0.25
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available