L362M (p.Leu362Met) variant of GRIN2B (Q13224)
L362M (p.Leu362Met) in GRIN2B (Q13224) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
L362M (p.Leu362Met) variant details
- p.Leu362Met
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- MetaLR 0.70
- MetaSVM 0.25
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID 22833210)