P14T (p.Pro14Thr) variant of GUCY2D (Retinal guanylyl cyclase 1)
P14T (p.Pro14Thr) 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 0.26 / 1. The record also includes published literature and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- rs1975658549
- ClinGen CA397942418
- ClinVar RCV003809334
- Uncertain significance
- Cone-rod dystrophy 6; Leber congenital amaurosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.18
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Cone-rod dystrophy 6; Leber congenital amaurosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)