I21T (p.Ile21Thr) variant of BBS2 (BBSome complex member BBS2)
I21T (p.Ile21Thr) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- gnomAD rs1288699870
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.22
- CADD 25.10
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available