T110I (p.Thr110Ile) variant of CEP290 (Centrosomal protein of 290 kDa)
T110I (p.Thr110Ile) 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 5; Senior-Loken syndrome 6; Bardet-Biedl syndrome 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T110I (p.Thr110Ile) variant details
- p.Thr110Ile
- ExAC rs764867143
- gnomAD rs764867143
- Uncertain significance
- Joubert syndrome 5; Senior-Loken syndrome 6; Bardet-Biedl syndrome 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.28
- CADD 25.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Joubert syndrome 5; Senior-Loken syndrome 6; Bardet-Biedl syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available