A2V (p.Ala2Val) variant of STXBP1 (Syntaxin-binding protein 1)
A2V (p.Ala2Val) 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 Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1838427784
- ClinGen CA375173539
- ClinVar RCV006466249
- Ensembl rs1838427784
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.74
- MetaLR 0.43
- MetaSVM -0.29
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.31
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available