D45E (p.Asp45Glu) variant of BBS1 (BBSome complex member BBS1)
D45E (p.Asp45Glu) 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 and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- gnomAD rs1380881883
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.89
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available