G11R (p.Gly11Arg) variant of STXBP1 (Syntaxin-binding protein 1)
G11R (p.Gly11Arg) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- gnomAD 9-127612434-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.45
- CADD 26.50
- PolyPhen-2 0.63
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available