V58E (p.Val58Glu) variant of CALCB (P10092)
V58E (p.Val58Glu) 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, published literature, and structural context.
V58E (p.Val58Glu) variant details
- p.Val58Glu
- gnomAD 11-15075147-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.08
- CADD 21.90
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available