I4T (p.Ile4Thr) variant of STXBP1 (Syntaxin-binding protein 1)
I4T (p.Ile4Thr) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- ExAC rs780924917
- TOPMed rs780924917
- gnomAD rs780924917
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.11
- CADD 21.30
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Uncertain significance (Early-infantile DEE)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available