S1452F (p.Ser1452Phe) variant of GRIN2B (Q13224)
S1452F (p.Ser1452Phe) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 27; Intellectual disability, autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S1452F (p.Ser1452Phe) variant details
- p.Ser1452Phe
- rs756790727
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 27; Intellectual disability, autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 27; Intellectual dis)
- EBI: uncertain significance
- UniProt: Uncertain significance
- 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)