M51I (p.Met51Ile) variant of STXBP1 (Syntaxin-binding protein 1)
M51I (p.Met51Ile) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
M51I (p.Met51Ile) variant details
- p.Met51Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.38
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available