S15P (p.Ser15Pro) variant of BBS4 (BBSome complex member BBS4)
S15P (p.Ser15Pro) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- gnomAD 15-72686544-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0986
- CADD 5.79
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available