M818I (p.Met818Ile) variant of GRIN2B (Q13224)
M818I (p.Met818Ile) 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; Complex neurodevelopmental disord. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
M818I (p.Met818Ile) variant details
- p.Met818Ile
- rs2136409777
- NCI-TCGA Cosmic COSV7420
- ClinGen CA383996406
- ClinVar RCV002249068
- Likely pathogenic
- Intellectual disability, autosomal dominant 6; Complex neurodevelopmental disord
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.66
- PolyPhen-2 1.00
- EVE 0.53
- MutPred 0.67
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 6; Complex neurodeve)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIN2B-Related Neurodevelopmental Disorder. (PMID 29851452)