S15W (p.Ser15Trp) variant of BBS4 (BBSome complex member BBS4)
S15W (p.Ser15Trp) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
S15W (p.Ser15Trp) variant details
- p.Ser15Trp
- rs1595897380
- gnomAD 15-72686551-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0472
- CADD 0.53
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available