M38T (p.Met38Thr) variant of STXBP1 (Syntaxin-binding protein 1)
M38T (p.Met38Thr) 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 0.36 / 1. The record also includes population frequency data and structural context.
M38T (p.Met38Thr) variant details
- p.Met38Thr
- rs538684549
- ClinGen CA201185127
- ClinVar RCV006465993
- 1000Genomes rs538684549
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.80
- MetaLR 0.28
- MetaSVM -0.75
- PolyPhen-2 0.08
- SIFT 0.72
- EVE 0.14
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available