T8R (p.Thr8Arg) variant of BBS4 (BBSome complex member BBS4)
T8R (p.Thr8Arg) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T8R (p.Thr8Arg) variant details
- p.Thr8Arg
- ExAC rs769894375
- TOPMed rs769894375
- gnomAD rs769894375
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.10
- MetaLR 0.17
- MetaSVM -0.97
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available