D130G (p.Asp130Gly) variant of BBS2 (BBSome complex member BBS2)
D130G (p.Asp130Gly) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D130G (p.Asp130Gly) variant details
- p.Asp130Gly
- TOPMed rs1964568630
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.30
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available