K25N (p.Lys25Asn) variant of STXBP1 (Syntaxin-binding protein 1)
K25N (p.Lys25Asn) 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 Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K25N (p.Lys25Asn) variant details
- p.Lys25Asn
- rs1410513659
- ClinGen CA375176126
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10096
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.21
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available