E103K (p.Glu103Lys) variant of GUCY2D (Retinal guanylyl cyclase 1)
E103K (p.Glu103Lys) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E103K (p.Glu103Lys) variant details
- p.Glu103Lys
- rs61749668
- ClinGen CA226122
- ClinVar RCV000084885
- ClinVar RCV000505073
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Pathogenic (in LCA1)
- UniProt: Pathogenic (in LCA1)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)