T36L (p.Thr36Leu) variant of BBS1 (BBSome complex member BBS1)
T36L (p.Thr36Leu) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T36L (p.Thr36Leu) variant details
- p.Thr36Leu
- rs1223395982
- gnomAD 11-66511067-CCA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available