L38F (p.Leu38Phe) variant of GUCY2D (Retinal guanylyl cyclase 1)
L38F (p.Leu38Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- rs1342972910
- ClinGen CA397942776
- ClinVar RCV003780236
- gnomAD rs1342972910
- Uncertain significance
- Cone-rod dystrophy 6; Leber congenital amaurosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.12
- ESM-1b 0.81
- AlphaMissense 0.09
- CADD 8.21
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Cone-rod dystrophy 6; Leber congenital amaurosis 1; not provided)
- 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)