T8A (p.Thr8Ala) variant of BBS4 (BBSome complex member BBS4)
T8A (p.Thr8Ala) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- gnomAD 15-72686249-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.19
- MetaLR 0.10
- MetaSVM -0.88
- CADD 7.95
- PolyPhen-2 0.00
- SIFT 0.85
- Population evidence available
- Structural context available
- Literature evidence available