R65G (p.Arg65Gly) variant of STXBP1 (Syntaxin-binding protein 1)
R65G (p.Arg65Gly) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
R65G (p.Arg65Gly) variant details
- p.Arg65Gly
- rs1564348737
- ClinGen CA375176419
- ClinVar RCV000713554
- Ensembl rs1564348737
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available