K25Q (p.Lys25Gln) variant of STXBP1 (Syntaxin-binding protein 1)
K25Q (p.Lys25Gln) 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 0.48 / 1. The record also includes population frequency data and structural context.
K25Q (p.Lys25Gln) variant details
- p.Lys25Gln
- rs756787732
- ClinGen CA5248209
- ClinVar RCV006463750
- ExAC rs756787732
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.39
- CADD 24.40
- PolyPhen-2 0.16
- SIFT 0.18
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available