I61T (p.Ile61Thr) variant of STXBP1 (Syntaxin-binding protein 1)
I61T (p.Ile61Thr) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
I61T (p.Ile61Thr) variant details
- p.Ile61Thr
- rs2539791994
- ClinGen CA375176395
- ClinVar RCV006561934
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.88
- CADD 27.10
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available