T8T (p.Thr8Thr) variant of BBS4 (BBSome complex member BBS4)
T8T (p.Thr8Thr) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T8T (p.Thr8Thr) variant details
- p.Thr8Thr
- gnomAD 15-72686251-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available