A8G (p.Ala8Gly) variant of STXBP1 (Syntaxin-binding protein 1)
A8G (p.Ala8Gly) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of STXBP1-related neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- rs1838429772
- ClinGen CA375173575
- ClinVar RCV001270898
- Ensembl rs1838429772
- Uncertain significance
- STXBP1-related neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.24
- MetaLR 0.35
- MetaSVM -0.32
- PolyPhen-2 0.01
- SIFT 0.08
- MutPred 0.41
- ClinVar: Uncertain significance (STXBP1-related neurodevelopmental disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available