S38S (p.Ser38Ser) variant of BBS1 (BBSome complex member BBS1)
S38S (p.Ser38Ser) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S38S (p.Ser38Ser) variant details
- p.Ser38Ser
- rs1272963515
- gnomAD 11-66511079-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.165
- CADD 11.40
- Population evidence available
- Structural context available
- Literature evidence available