L29F (p.Leu29Phe) variant of GUCY2D (Retinal guanylyl cyclase 1)
L29F (p.Leu29Phe) 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 Leber congenital amaurosis 1; Cone-rod dystrophy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L29F (p.Leu29Phe) variant details
- p.Leu29Phe
- rs1975660689
- ClinGen CA397942664
- ClinVar RCV002914522
- Ensembl rs1975660689
- Uncertain significance
- Leber congenital amaurosis 1; Cone-rod dystrophy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.09
- ESM-1b 0.25
- AlphaMissense 0.08
- CADD 7.73
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Leber congenital amaurosis 1; Cone-rod dystrophy 6)
- 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)