D14G (p.Asp14Gly) variant of CEP290 (Centrosomal protein of 290 kDa)
D14G (p.Asp14Gly) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
D14G (p.Asp14Gly) variant details
- p.Asp14Gly
- rs2138306044
- ClinGen CA385990371
- ClinVar RCV001591914
- Ensembl rs2138306044
- Uncertain significance
- Leber congenital amaurosis 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.33
- MetaLR 0.59
- MetaSVM 0.25
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.74
- ClinVar: Uncertain significance (Leber congenital amaurosis 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)