A7E (p.Ala7Glu) variant of BBS4 (BBSome complex member BBS4)
A7E (p.Ala7Glu) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- TOPMed rs113994186
- gnomAD rs113994186
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -0.99
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available