T10A (p.Thr10Ala) variant of BBS4 (BBSome complex member BBS4)
T10A (p.Thr10Ala) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T10A (p.Thr10Ala) variant details
- p.Thr10Ala
- gnomAD 15-72695180-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.36
- MetaLR 0.19
- MetaSVM -0.93
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available