T96K (p.Thr96Lys) variant of BBS2 (BBSome complex member BBS2)
T96K (p.Thr96Lys) 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 See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
T96K (p.Thr96Lys) variant details
- p.Thr96Lys
- rs2144192969
- ClinGen CA395985610
- ClinVar RCV002253056
- Ensembl rs2144192969
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- AlphaMissense 0.82
- MetaLR 0.50
- MetaSVM 0.08
- SIFT 0.00
- MutPred 0.44
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available