S15L (p.Ser15Leu) variant of BBS4 (BBSome complex member BBS4)
S15L (p.Ser15Leu) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S15L (p.Ser15Leu) variant details
- p.Ser15Leu
- rs1595897380
- gnomAD 15-72686551-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0557
- CADD 0.66
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available