I50N (p.Ile50Asn) variant of GRIN2B (Q13224)
I50N (p.Ile50Asn) in GRIN2B (Q13224) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
I50N (p.Ile50Asn) variant details
- p.Ile50Asn
- Uncertain significance
- Missense
- MetaLR 0.04
- MetaSVM -1.04
- SIFT 0.00
- EBI: uncertain significance
- UniProt: Uncertain significance
- Cited in: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID 22833210)