S7T (p.Ser7Thr) variant of BBS1 (BBSome complex member BBS1)
S7T (p.Ser7Thr) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S7T (p.Ser7Thr) variant details
- p.Ser7Thr
- TOPMed rs903736005
- gnomAD rs903736005
- Uncertain significance
- Bardet-Biedl syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.28
- CADD 9.28
- PolyPhen-2 0.05
- SIFT 0.17
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available