D128Y (p.Asp128Tyr) variant of CEP290 (Centrosomal protein of 290 kDa)
D128Y (p.Asp128Tyr) 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 Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
D128Y (p.Asp128Tyr) variant details
- p.Asp128Tyr
- rs755112866
- ClinGen CA385987399
- cosmic curated COSV58350
- ClinVar RCV001299329
- Uncertain significance
- Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 0.14
- MetaLR 0.63
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.54
- ClinVar: Uncertain significance (Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)