M1I (p.Met1Ile) variant of GUCY2D (Retinal guanylyl cyclase 1)
M1I (p.Met1Ile) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs281865409
- ClinGen CA226146
- ClinVar RCV000084899
- ClinVar RCV001250812
- Pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.34
- MetaSVM -0.59
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Pathogenic (Cone-rod dystrophy 6; Leber congenital amaurosis 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)