S15Y (p.Ser15Tyr) variant of BBS4 (BBSome complex member BBS4)
S15Y (p.Ser15Tyr) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S15Y (p.Ser15Tyr) variant details
- p.Ser15Tyr
- TOPMed rs2065053817
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.35
- MetaLR 0.26
- MetaSVM -0.54
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available