R28Q (p.Arg28Gln) variant of GNAT1 (P11488)
R28Q (p.Arg28Gln) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Congenital stationary night blindness autosomal dominant 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- rs149936603
- ClinGen CA2412433
- ClinVar RCV000259457
- ClinVar RCV001437241
- Conflicting interpretations
- not provided; Congenital stationary night blindness autosomal dominant 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.48
- AlphaMissense 0.19
- MetaLR 0.45
- MetaSVM -0.04
- CADD 27.90
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (not provided; Congenital stationary night blindness autosomal do)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available