T37R (p.Thr37Arg) variant of BBS2 (BBSome complex member BBS2)
T37R (p.Thr37Arg) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T37R (p.Thr37Arg) variant details
- p.Thr37Arg
- TOPMed rs1051893335
- gnomAD rs1051893335
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.11
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available