L48L (p.Leu48Leu) variant of CALCB (P10092)
L48L (p.Leu48Leu) in CALCB (P10092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- gnomAD 11-15075118-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 11.80
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available