E72D (p.Glu72Asp) variant of CEP290 (Centrosomal protein of 290 kDa)
E72D (p.Glu72Asp) 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 Inborn genetic diseases; Joubert syndrome; Nephronophthisis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E72D (p.Glu72Asp) variant details
- p.Glu72Asp
- rs750607382
- ClinGen CA6712877
- ClinVar RCV003092862
- ClinVar RCV003161817
- Uncertain significance
- Inborn genetic diseases; Joubert syndrome; Nephronophthisis
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.29
- CADD 24.00
- PolyPhen-2 0.79
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Joubert syndrome; Nephronophthisis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)