I643T (p.Ile643Thr) variant of GRIN1 (Q05586)
I643T (p.Ile643Thr) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
I643T (p.Ile643Thr) variant details
- p.Ile643Thr
- rs2131299190
- ClinGen CA375720704
- ClinVar RCV002002870
- Ensembl rs2131299190
- Uncertain significance
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- AlphaMissense 0.97
- MetaLR 0.40
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Variant of uncertain significance (in NDHMSD)
- UniProt: Uncertain significance (in NDHMSD)
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)