D56V (p.Asp56Val) variant of CALCB (P10092)
D56V (p.Asp56Val) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D56V (p.Asp56Val) variant details
- p.Asp56Val
- gnomAD 11-15075141-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.18
- CADD 23.80
- PolyPhen-2 0.26
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available