D56Y (p.Asp56Tyr) variant of CALCB (P10092)
D56Y (p.Asp56Tyr) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D56Y (p.Asp56Tyr) variant details
- p.Asp56Tyr
- gnomAD 11-15075140-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.16
- CADD 24.60
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available