D17A (p.Asp17Ala) variant of CEP290 (Centrosomal protein of 290 kDa)
D17A (p.Asp17Ala) 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 Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D17A (p.Asp17Ala) variant details
- p.Asp17Ala
- rs1182703361
- ClinGen CA385990331
- ClinVar RCV002278929
- ClinVar RCV003101599
- Uncertain significance
- Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.05
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)