V54L (p.Val54Leu) variant of CALCB (P10092)
V54L (p.Val54Leu) 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.
V54L (p.Val54Leu) variant details
- p.Val54Leu
- TOPMed rs1850382480
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.17
- CADD 17.50
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available