A682S (p.Ala682Ser) variant of GRIN1 (Q05586)
A682S (p.Ala682Ser) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
A682S (p.Ala682Ser) variant details
- p.Ala682Ser
- rs1126448
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.78
- MetaLR 0.33
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.36
- Structural context available
- Cited in: Cloning and localization of exon 5-containing isoforms of the NMDAR1 subunit in human and rat brains. (PMID 9231706)