D129G (p.Asp129Gly) variant of GNAT1 (P11488)
D129G (p.Asp129Gly) 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 1G. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
D129G (p.Asp129Gly) variant details
- p.Asp129Gly
- rs786205854
- ClinGen CA250324
- ClinVar RCV000171141
- UniProt VAR 073798
- Pathogenic
- Congenital stationary night blindness 1G
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.66
- ClinVar: Pathogenic (Congenital stationary night blindness 1G)
- EBI: Pathogenic (in CSNB1G)
- UniProt: Pathogenic (in CSNB1G)
- Structural context available
- Cited in: GNAT1 associated with autosomal recessive congenital stationary night blindness. (PMID 22190596)