A3G (p.Ala3Gly) variant of BBS1 (BBSome complex member BBS1)
A3G (p.Ala3Gly) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- gnomAD 11-66510667-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.32
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available