M1K (p.Met1Lys) variant of GUCY2D (Retinal guanylyl cyclase 1)
M1K (p.Met1Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs281865408
- ClinGen CA226114
- ClinVar RCV000084880
- ClinVar RCV001250811
- Pathogenic
- Leber congenital amaurosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.34
- MetaSVM -0.35
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Pathogenic (Leber congenital amaurosis 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)