G5R (p.Gly5Arg) variant of STXBP1 (Syntaxin-binding protein 1)
G5R (p.Gly5Arg) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD 9-127612416-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.61
- CADD 25.90
- PolyPhen-2 0.62
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available