A349S (p.Ala349Ser) variant of GRIN1 (Q05586)
A349S (p.Ala349Ser) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A349S (p.Ala349Ser) variant details
- p.Ala349Ser
- rs148008303
- Conflicting interpretations
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 0.90
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Neurodevelopmental disorder with or without hyperkinetic movemen)
- UniProt: Conflicting interpretations (in dbSNP:rs148008303)
- 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)