V58M (p.Val58Met) variant of CALCB (P10092)
V58M (p.Val58Met) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V58M (p.Val58Met) variant details
- p.Val58Met
- ExAC rs747622008
- TOPMed rs747622008
- gnomAD rs747622008
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.01
- CADD 20.20
- PolyPhen-2 0.23
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available