R794Q (p.Arg794Gln) variant of GRIN1 (Q05586)
R794Q (p.Arg794Gln) in GRIN1 (Q05586) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
R794Q (p.Arg794Gln) variant details
- p.Arg794Gln
- rs781053477
- Likely pathogenic
- Missense
- EBI: ['likely-pathogenic']
- UniProt: Likely-pathogenic
- Structural context available