L6P (p.Leu6Pro) variant of STXBP1 (Syntaxin-binding protein 1)
L6P (p.Leu6Pro) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. 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.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- rs2539639339
- ClinGen CA375173562
- ClinVar RCV003229392
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.67
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available