G1026S (p.Gly1026Ser) variant of GRIN2B (Q13224)
G1026S (p.Gly1026Ser) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Intellectual disability, autosomal dominant 6; Developm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
G1026S (p.Gly1026Ser) variant details
- p.Gly1026Ser
- rs201963596
- Conflicting interpretations
- Inborn genetic diseases; Intellectual disability, autosomal dominant 6; Developm
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- MetaLR 0.03
- MetaSVM -1.10
- CADD 22.20
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Intellectual disability, autosomal domi)
- UniProt: Conflicting interpretations (in dbSNP:rs201963596)
- Population evidence available
- Cited in: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID 22833210)