G26E (p.Gly26Glu) variant of BBS2 (BBSome complex member BBS2)
G26E (p.Gly26Glu) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G26E (p.Gly26Glu) variant details
- p.Gly26Glu
- TOPMed rs1277638084
- gnomAD rs1277638084
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.77
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available