V6D (p.Val6Asp) variant of BBS4 (BBSome complex member BBS4)
V6D (p.Val6Asp) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V6D (p.Val6Asp) variant details
- p.Val6Asp
- gnomAD 15-72686244-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.27
- MetaLR 0.15
- MetaSVM -0.98
- CADD 7.27
- PolyPhen-2 0.00
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available