R35L (p.Arg35Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
R35L (p.Arg35Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cone-rod dystrophy 6; Leber congenital amaurosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R35L (p.Arg35Leu) variant details
- p.Arg35Leu
- rs748156659
- ClinGen CA397942749
- ClinVar RCV001209241
- ExAC rs748156659
- Uncertain significance
- Cone-rod dystrophy 6; Leber congenital amaurosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.30
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Uncertain significance (Cone-rod dystrophy 6; Leber congenital amaurosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)