V18I (p.Val18Ile) variant of GRIN2B (Q13224)
V18I (p.Val18Ile) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as benign/likely benign in the context of Intellectual disability, autosomal dominant 6; Developmental and epileptic encep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- rs201094029
- Benign/Likely benign
- Intellectual disability, autosomal dominant 6; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- MetaLR 0.02
- MetaSVM -0.99
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Benign/Likely benign (Intellectual disability, autosomal dominant 6; Developmental and)
- UniProt: Likely benign (in dbSNP:rs201094029)
- Population evidence available
- Structural context available
- Cited in: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID 22833210)