L50del (p.Leu50del) variant of CALCB (P10092)
L50del (p.Leu50del) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L50del (p.Leu50del) variant details
- gnomAD 11-15075114-GCCT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 20.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available