G50G (p.Gly50Gly) variant of BBS1 (BBSome complex member BBS1)
G50G (p.Gly50Gly) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G50G (p.Gly50Gly) variant details
- p.Gly50Gly
- gnomAD 11-66511230-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 12.80
- Population evidence available
- Structural context available
- Literature evidence available