P711L (p.Pro711Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
P711L (p.Pro711Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P711L (p.Pro711Leu) variant details
- p.Pro711Leu
- rs765463082
- ClinGen CA8366018
- NCI-TCGA Cosmic COSV9964
- ClinVar RCV001250836
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 27.90
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)