I4V (p.Ile4Val) variant of STXBP1 (Syntaxin-binding protein 1)
I4V (p.Ile4Val) 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 Developmental and epileptic encephalopathy, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- rs2539639296
- ClinGen CA375173545
- ClinVar RCV003138850
- Uncertain significance
- Developmental and epileptic encephalopathy, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.05
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)