P37R (p.Pro37Arg) variant of GUCY2D (Retinal guanylyl cyclase 1)
P37R (p.Pro37Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- rs1424853491
- ClinGen CA397942772
- ClinVar RCV002301342
- Uncertain significance
- Cone-rod dystrophy 6; Leber congenital amaurosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Cone-rod dystrophy 6; Leber congenital amaurosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)