D49G (p.Asp49Gly) variant of BBS1 (BBSome complex member BBS1)
D49G (p.Asp49Gly) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D49G (p.Asp49Gly) variant details
- p.Asp49Gly
- gnomAD 11-66511221-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available