L76V (p.Leu76Val) variant of STXBP1 (Syntaxin-binding protein 1)
L76V (p.Leu76Val) 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 Developmental and epileptic encephalopathy, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L76V (p.Leu76Val) variant details
- p.Leu76Val
- rs2539792329
- NCI-TCGA Cosmic COSV6481
- cosmic curated COSV64812
- ClinGen CA375176492
- Uncertain significance
- Developmental and epileptic encephalopathy, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.69
- CADD 24.60
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)