D8G (p.Asp8Gly) variant of BBS1 (BBSome complex member BBS1)
D8G (p.Asp8Gly) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D8G (p.Asp8Gly) variant details
- p.Asp8Gly
- gnomAD 11-66510682-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.37
- CADD 25.30
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available