F20C (p.Phe20Cys) variant of EPCAM (P16422)
F20C (p.Phe20Cys) 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.
F20C (p.Phe20Cys) variant details
- p.Phe20Cys
- gnomAD 2-47369561-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available