L53L (p.Leu53Leu) variant of CALCB (P10092)
L53L (p.Leu53Leu) in CALCB (P10092) is a synonymous 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.
L53L (p.Leu53Leu) variant details
- p.Leu53Leu
- rs778709516
- gnomAD 11-15075131-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 11.40
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available