R64H (p.Arg64His) variant of STXBP1 (Syntaxin-binding protein 1)
R64H (p.Arg64His) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar 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 0.65 / 1. The record also includes population frequency data and structural context.
R64H (p.Arg64His) variant details
- p.Arg64His
- cosmic curated COSV64814
- gnomAD rs1473863285
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.55
- CADD 25.90
- PolyPhen-2 0.87
- SIFT 0.10
- ClinVar: Likely benign (Early-infantile DEE)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available