H16R (p.His16Arg) variant of STXBP1 (Syntaxin-binding protein 1)
H16R (p.His16Arg) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H16R (p.His16Arg) variant details
- p.His16Arg
- ExAC rs571127140
- TOPMed rs571127140
- gnomAD rs571127140
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available