A32G (p.Ala32Gly) variant of BBS1 (BBSome complex member BBS1)
A32G (p.Ala32Gly) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A32G (p.Ala32Gly) variant details
- p.Ala32Gly
- gnomAD 11-66511060-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.83
- CADD 28.00
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available