F28S (p.Phe28Ser) variant of CALCB (P10092)
F28S (p.Phe28Ser) in CALCB (P10092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
F28S (p.Phe28Ser) variant details
- p.Phe28Ser
- rs1393895916
- gnomAD 11-15074799-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available