I540M (p.Ile540Met) variant of GRIN1 (Q05586)
I540M (p.Ile540Met) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
I540M (p.Ile540Met) variant details
- p.Ile540Met
- rs3181457
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- AlphaMissense 0.98
- MetaLR 0.18
- MetaSVM -0.86
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.31
- Structural context available
- Cited in: Cloning and localization of exon 5-containing isoforms of the NMDAR1 subunit in human and rat brains. (PMID 9231706)