M1V (p.Met1Val) variant of GUCY2D (Retinal guanylyl cyclase 1)
M1V (p.Met1Val) 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 Leber congenital amaurosis 1; GUCY2D-related disorders; Cone-rod dystrophy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1424348888
- ClinGen CA397942217
- ClinVar RCV002250039
- ClinVar RCV003774717
- Pathogenic
- Leber congenital amaurosis 1; GUCY2D-related disorders; Cone-rod dystrophy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- ESM-1b 0.58
- AlphaMissense 0.11
- MetaLR 0.33
- MetaSVM -0.48
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Pathogenic (Leber congenital amaurosis 1; GUCY2D-related disorders; Cone-rod)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)