K24E (p.Lys24Glu) variant of STXBP1 (Syntaxin-binding protein 1)
K24E (p.Lys24Glu) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
K24E (p.Lys24Glu) variant details
- p.Lys24Glu
- rs2132436701
- ClinGen CA375176113
- ClinVar RCV001727487
- Ensembl rs2132436701
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.32
- MetaLR 0.46
- MetaSVM -0.21
- PolyPhen-2 0.04
- SIFT 0.07
- MutPred 0.47
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available