A26T (p.Ala26Thr) variant of BBS4 (BBSome complex member BBS4)
A26T (p.Ala26Thr) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- gnomAD 15-72695228-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.24
- MetaLR 0.19
- MetaSVM -0.72
- CADD 32.00
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available