M51V (p.Met51Val) variant of STXBP1 (Syntaxin-binding protein 1)
M51V (p.Met51Val) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
M51V (p.Met51Val) variant details
- p.Met51Val
- NCI-TCGA TCGA novel
- TOPMed rs1840658033
- gnomAD rs1840658033
- Benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.45
- CADD 22.30
- ClinVar: Benign (Early-infantile DEE)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available