C4Y (p.Cys4Tyr) variant of GUCY2D (Retinal guanylyl cyclase 1)
C4Y (p.Cys4Tyr) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Leber congenital amaurosis 1; Cone-rod dystrophy 6; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C4Y (p.Cys4Tyr) variant details
- p.Cys4Tyr
- rs764072081
- ClinGen CA8365465
- ClinVar RCV002900451
- 1000Genomes rs764072081
- Benign
- Leber congenital amaurosis 1; Cone-rod dystrophy 6; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.19
- ESM-1b 0.48
- AlphaMissense 0.14
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Benign (Leber congenital amaurosis 1; Cone-rod dystrophy 6; not specifie)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)