T98A (p.Thr98Ala) variant of BBS2 (BBSome complex member BBS2)
T98A (p.Thr98Ala) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
T98A (p.Thr98Ala) variant details
- p.Thr98Ala
- TOPMed rs1964676797
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.47
- CADD 24.30
- PolyPhen-2 0.70
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available