L41F (p.Leu41Phe) variant of GUCY2D (Retinal guanylyl cyclase 1)
L41F (p.Leu41Phe) 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 GUCY2D-related disorder; Choroidal dystrophy, central areolar, 1; Cone-rod dystr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- rs61749664
- ClinGen CA226039
- ClinVar RCV000084829
- ClinVar RCV001227542
- Uncertain significance
- GUCY2D-related disorder; Choroidal dystrophy, central areolar, 1; Cone-rod dystr
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 8.89
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (GUCY2D-related disorder; Choroidal dystrophy, central areolar, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.002)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)