A2T (p.Ala2Thr) variant of BBS4 (BBSome complex member BBS4)
A2T (p.Ala2Thr) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 15-72686231-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.37
- MetaLR 0.48
- MetaSVM -0.12
- CADD 24.50
- PolyPhen-2 0.96
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available