A2A (p.Ala2Ala) variant of STXBP1 (Syntaxin-binding protein 1)
A2A (p.Ala2Ala) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs144094037
- gnomAD 9-127612409-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 14.70
- Most common in the African/African-American population (allele frequency 0.0024)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)