A11T (p.Ala11Thr) variant of BBS1 (BBSome complex member BBS1)
A11T (p.Ala11Thr) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD 11-66510690-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.26
- CADD 0.08
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available