D10E (p.Asp10Glu) variant of BBS1 (BBSome complex member BBS1)
D10E (p.Asp10Glu) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- TOPMed rs1360969412
- gnomAD rs1360969412
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.26
- CADD 7.88
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available