A73D (p.Ala73Asp) variant of STXBP1 (Syntaxin-binding protein 1)
A73D (p.Ala73Asp) 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 0.88 / 1. The record also includes structural context.
A73D (p.Ala73Asp) variant details
- p.Ala73Asp
- rs1554776686
- ClinGen CA375176476
- ClinVar RCV000658186
- Ensembl rs1554776686
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.84
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.96
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available