M40K (p.Met40Lys) variant of STXBP1 (Syntaxin-binding protein 1)
M40K (p.Met40Lys) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
M40K (p.Met40Lys) variant details
- p.Met40Lys
- rs1840654963
- ClinGen CA375176238
- ClinVar RCV006466361
- Ensembl rs1840654963
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available