S1415L (p.Ser1415Leu) variant of GRIN2B (Q13224)
S1415L (p.Ser1415Leu) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability, autosomal dominant 6; Developmental and e. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
S1415L (p.Ser1415Leu) variant details
- p.Ser1415Leu
- rs201463390
- Conflicting interpretations
- not provided; Intellectual disability, autosomal dominant 6; Developmental and e
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- MetaLR 0.02
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability, autosomal dominant 6; Dev)
- EBI: uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID 22833210)