A44G (p.Ala44Gly) variant of BBS1 (BBSome complex member BBS1)
A44G (p.Ala44Gly) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A44G (p.Ala44Gly) variant details
- p.Ala44Gly
- gnomAD 11-66511211-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.60
- CADD 27.60
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available