T16del (p.Thr16del) variant of BBS4 (BBSome complex member BBS4)
T16del (p.Thr16del) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T16del (p.Thr16del) variant details
- rs1260734059
- gnomAD 15-72695195-TCTA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 16.40
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available