A806V (p.Ala806Val) variant of GRIN1 (Q05586)
A806V (p.Ala806Val) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GRIN1-related disorder; Neurodevelopmental disorder with or without hyperkinetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A806V (p.Ala806Val) variant details
- p.Ala806Val
- rs1554770589
- ClinGen CA375725821
- ClinVar RCV000999297
- ClinVar RCV002272383
- Conflicting interpretations
- GRIN1-related disorder; Neurodevelopmental disorder with or without hyperkinetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.91
- MetaLR 0.30
- MetaSVM -0.40
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.48
- ClinVar: Conflicting classifications of pathogenicity (GRIN1-related disorder; Neurodevelopmental disorder with or with)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)