R4W (p.Arg4Trp) variant of CALCB (P10092)
R4W (p.Arg4Trp) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- gnomAD 11-15074728-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.17
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available