F20L (p.Phe20Leu) variant of EPCAM (P16422)
F20L (p.Phe20Leu) in EPCAM (P16422) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F20L (p.Phe20Leu) variant details
- p.Phe20Leu
- rs1467836462
- gnomAD 2-47369561-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 20.90
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available