A7S (p.Ala7Ser) variant of BBS4 (BBSome complex member BBS4)
A7S (p.Ala7Ser) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 15-72686246-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -0.96
- CADD 3.72
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available