I61V (p.Ile61Val) variant of STXBP1 (Syntaxin-binding protein 1)
I61V (p.Ile61Val) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I61V (p.Ile61Val) variant details
- p.Ile61Val
- TOPMed rs1039353058
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.38
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available