G57A (p.Gly57Ala) variant of BBS1 (BBSome complex member BBS1)
G57A (p.Gly57Ala) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- gnomAD 11-66514416-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.47
- CADD 19.50
- PolyPhen-2 0.12
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available