Q200E (p.Gln200Glu) variant of GNAT1 (P11488)
Q200E (p.Gln200Glu) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital stationary night blindness autosomal dominant 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Q200E (p.Gln200Glu) variant details
- p.Gln200Glu
- rs786205853
- ClinGen CA199760
- ClinVar RCV000171140
- UniProt VAR 073799
- Pathogenic
- Congenital stationary night blindness autosomal dominant 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.94
- MetaLR 0.90
- MetaSVM 1.04
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Congenital stationary night blindness autosomal dominant 3)
- EBI: Pathogenic (in CSNBAD3)
- UniProt: Pathogenic (in CSNBAD3)
- Structural context available
- Cited in: p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital… (PMID 17584859)
- Cited in: Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital… (PMID 8673138)