R39P (p.Arg39Pro) variant of STXBP1 (Syntaxin-binding protein 1)
R39P (p.Arg39Pro) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R39P (p.Arg39Pro) variant details
- p.Arg39Pro
- rs989385275
- gnomAD 9-127613269-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 15.10
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available