S25F (p.Ser25Phe) variant of GUCY2D (Retinal guanylyl cyclase 1)
S25F (p.Ser25Phe) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S25F (p.Ser25Phe) variant details
- p.Ser25Phe
- rs557108466
- ClinGen CA8365468
- ClinVar RCV000512972
- ClinVar RCV000787615
- Benign
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Benign (GUCY2D-related recessive retinopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)