T47I (p.Thr47Ile) variant of BBS2 (BBSome complex member BBS2)
T47I (p.Thr47Ile) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BBS2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- TOPMed rs1964682649
- Uncertain significance
- BBS2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.04
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.13
- ClinVar: Uncertain significance (BBS2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available