I835T (p.Ile835Thr) variant of GRIN1 (Q05586)
I835T (p.Ile835Thr) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Self-limited epilepsy with centrotemporal spikes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
I835T (p.Ile835Thr) variant details
- p.Ile835Thr
- rs1554770659
- ClinGen CA375726637
- ClinVar RCV000656029
- TOPMed rs1554770659
- Pathogenic
- Self-limited epilepsy with centrotemporal spikes
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.98
- MetaLR 0.39
- MetaSVM -0.24
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.48
- ClinVar: Pathogenic (Self-limited epilepsy with centrotemporal spikes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available