P14A (p.Pro14Ala) variant of GUCY2D (Retinal guanylyl cyclase 1)
P14A (p.Pro14Ala) 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 Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- rs1975658549
- ClinGen CA397942420
- ClinVar RCV001198127
- ClinVar RCV003770215
- Uncertain significance
- Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.18
- MetaSVM -0.91
- CADD 6.82
- ClinVar: Uncertain significance (Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; L)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)