V9I (p.Val9Ile) variant of STXBP1 (Syntaxin-binding protein 1)
V9I (p.Val9Ile) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- rs1262952349
- ClinGen CA375173577
- ClinVar RCV006609596
- gnomAD rs1262952349
- Benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.20
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Benign (Early-infantile DEE)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available