T16S (p.Thr16Ser) variant of BBS4 (BBSome complex member BBS4)
T16S (p.Thr16Ser) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- TOPMed rs1327916676
- gnomAD rs1327916676
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -0.95
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available