I50I (p.Ile50Ile) variant of STXBP1 (Syntaxin-binding protein 1)
I50I (p.Ile50Ile) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I50I (p.Ile50Ile) variant details
- p.Ile50Ile
- rs1840657878
- gnomAD 9-127653777-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 14.30
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available