L825V (p.Leu825Val) variant of GRIN2B (Q13224)
L825V (p.Leu825Val) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability, autosomal dominant 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature.
L825V (p.Leu825Val) variant details
- p.Leu825Val
- rs1948651813
- Likely pathogenic
- Intellectual disability, autosomal dominant 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.98
- MetaLR 0.18
- MetaSVM -0.87
- PolyPhen-2 1.00
- EVE 0.53
- MutPred 0.75
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 6)
- 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)