W21R (p.Trp21Arg) variant of GUCY2D (Retinal guanylyl cyclase 1)
W21R (p.Trp21Arg) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
W21R (p.Trp21Arg) variant details
- p.Trp21Arg
- rs9905402
- ClinGen CA145844
- ClinVar RCV000078320
- ClinVar RCV000084902
- Benign
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 9.46
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Benign (GUCY2D-related recessive retinopathy)
- EBI: Benign (in dbSNP:rs9905402)
- UniProt: Benign (in dbSNP:rs9905402)
- Most common in the HGDP:SAN population (allele frequency 0.7)
- Structural context available
- Cited in: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (PMID 21602930)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)