S6L (p.Ser6Leu) variant of BBS1 (BBSome complex member BBS1)
S6L (p.Ser6Leu) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S6L (p.Ser6Leu) variant details
- p.Ser6Leu
- ExAC rs748399641
- TOPMed rs748399641
- gnomAD rs748399641
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.19
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available