V618G (p.Val618Gly) variant of GRIN2B (Q13224)
V618G (p.Val618Gly) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes published literature.
V618G (p.Val618Gly) variant details
- p.Val618Gly
- rs672601376
- Likely pathogenic
- Intellectual disability, autosomal dominant 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 1.00
- MetaLR 0.23
- MetaSVM -0.60
- PolyPhen-2 1.00
- EVE 0.68
- MutPred 0.63
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 6)
- UniProt: Likely pathogenic (in DEE27)
- Cited in: GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. (PMID 24272827)