I34T (p.Ile34Thr) variant of BBS1 (BBSome complex member BBS1)
I34T (p.Ile34Thr) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
I34T (p.Ile34Thr) variant details
- p.Ile34Thr
- Ensembl rs778261474
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.86
- CADD 29.20
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available