T8I (p.Thr8Ile) variant of BBS4 (BBSome complex member BBS4)
T8I (p.Thr8Ile) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- gnomAD 15-72686527-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0659
- CADD 2.86
- SIFT 0.06
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available