T110A (p.Thr110Ala) variant of CEP290 (Centrosomal protein of 290 kDa)
T110A (p.Thr110Ala) 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 CEP290-related ciliopathy; Joubert syndrome; Meckel-Gruber syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T110A (p.Thr110Ala) variant details
- p.Thr110Ala
- rs750018041
- ClinGen CA385987696
- ClinVar RCV001345219
- ClinVar RCV001825909
- Uncertain significance
- CEP290-related ciliopathy; Joubert syndrome; Meckel-Gruber syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.29
- CADD 24.60
- PolyPhen-2 0.57
- SIFT 0.04
- ClinVar: Uncertain significance (CEP290-related ciliopathy; Joubert syndrome; Meckel-Gruber syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)