D49H (p.Asp49His) variant of BBS1 (BBSome complex member BBS1)
D49H (p.Asp49His) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
D49H (p.Asp49His) variant details
- p.Asp49His
- TOPMed rs1384153100
- gnomAD rs1384153100
- Uncertain significance
- Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available