P67L (p.Pro67Leu) variant of STXBP1 (Syntaxin-binding protein 1)
P67L (p.Pro67Leu) 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 Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- rs1182540431
- ClinGen CA375176439
- ClinVar RCV006562766
- gnomAD rs1182540431
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.82
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available