T56M (p.Thr56Met) variant of STXBP1 (Syntaxin-binding protein 1)
T56M (p.Thr56Met) 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 0.87 / 1. The record also includes population frequency data and structural context.
T56M (p.Thr56Met) variant details
- p.Thr56Met
- NCI-TCGA Cosmic COSV6481
- cosmic curated COSV64813
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.90
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available