A2G (p.Ala2Gly) variant of BBS1 (BBSome complex member BBS1)
A2G (p.Ala2Gly) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- TOPMed rs1232711188
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.47
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available