V242G (p.Val242Gly) variant of GUCY2D (Retinal guanylyl cyclase 1)
V242G (p.Val242Gly) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V242G (p.Val242Gly) variant details
- p.Val242Gly
- rs1975686657
- ClinGen CA397945013
- ClinVar RCV001250826
- ClinVar RCV002570446
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)