T110P (p.Thr110Pro) variant of CEP290 (Centrosomal protein of 290 kDa)
T110P (p.Thr110Pro) 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.
T110P (p.Thr110Pro) variant details
- p.Thr110Pro
- ExAC rs750018041
- gnomAD rs750018041
- Uncertain significance
- Joubert syndrome 5; Senior-Loken syndrome 6; Bardet-Biedl syndrome 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.38
- CADD 25.60
- 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 3e-05)
- Structural context available