Y106C (p.Tyr106Cys) variant of BBS2 (BBSome complex member BBS2)
Y106C (p.Tyr106Cys) 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 Bardet-Biedl syndrome 2; Retinitis pigmentosa 74. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Y106C (p.Tyr106Cys) variant details
- p.Tyr106Cys
- ExAC rs759489551
- TOPMed rs759489551
- gnomAD rs759489551
- Uncertain significance
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.25
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available