I55T (p.Ile55Thr) variant of BBS4 (BBSome complex member BBS4)
I55T (p.Ile55Thr) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I55T (p.Ile55Thr) variant details
- p.Ile55Thr
- TOPMed rs1423288906
- gnomAD rs1423288906
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.47
- MetaLR 0.34
- MetaSVM -0.41
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available