V15M (p.Val15Met) variant of GRIN2B (Q13224)
V15M (p.Val15Met) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- rs1057519553
- Uncertain significance
- Epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- MetaLR 0.02
- MetaSVM -1.10
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Epileptic encephalopathy)
- EBI: uncertain significance (in DEE27)
- UniProt: Uncertain significance (in DEE27)
- Population evidence available
- Structural context available
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)