E28A (p.Glu28Ala) variant of BBS4 (BBSome complex member BBS4)
E28A (p.Glu28Ala) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- Ensembl rs1567410420
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.29
- MetaLR 0.30
- MetaSVM -0.43
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available