G38D (p.Gly38Asp) variant of GNAT1 (P11488)
G38D (p.Gly38Asp) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- rs104893740
- ClinGen CA126053
- ClinVar RCV000017277
- UniProt VAR 009279
- Pathogenic
- Congenital stationary night blindness autosomal dominant 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.78
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital stationary night blindness autosomal dominant 3)
- EBI: Pathogenic (in CSNBAD3)
- UniProt: Pathogenic (in CSNBAD3)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital… (PMID 8673138)
- Cited in: p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital… (PMID 17584859)