R64C (p.Arg64Cys) variant of STXBP1 (Syntaxin-binding protein 1)
R64C (p.Arg64Cys) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar 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 0.71 / 1. The record also includes population frequency data and structural context.
R64C (p.Arg64Cys) variant details
- p.Arg64Cys
- rs760033783
- NCI-TCGA Cosmic COSV6481
- cosmic curated COSV64812
- ExAC rs760033783
- Benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.73
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.04
- ClinVar: Benign (Early-infantile DEE)
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available