Y103H (p.Tyr103His) variant of BBS2 (BBSome complex member BBS2)
Y103H (p.Tyr103His) 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 0.82 / 1. The record also includes population frequency data and structural context.
Y103H (p.Tyr103His) variant details
- p.Tyr103His
- TOPMed rs1316813455
- gnomAD rs1316813455
- Uncertain significance
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.95
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available