V58L (p.Val58Leu) variant of CALCB (P10092)
V58L (p.Val58Leu) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V58L (p.Val58Leu) variant details
- p.Val58Leu
- ExAC rs747622008
- TOPMed rs747622008
- gnomAD rs747622008
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.07
- CADD 19.50
- PolyPhen-2 0.23
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available