D25G (p.Asp25Gly) variant of BBS1 (BBSome complex member BBS1)
D25G (p.Asp25Gly) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D25G (p.Asp25Gly) variant details
- p.Asp25Gly
- gnomAD 11-66511039-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 0.72
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available