E28G (p.Glu28Gly) variant of BBS4 (BBSome complex member BBS4)
E28G (p.Glu28Gly) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- Ensembl rs1567410420
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.37
- MetaLR 0.35
- MetaSVM -0.26
- CADD 24.30
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available