F9F (p.Phe9Phe) variant of EPCAM (P16422)
F9F (p.Phe9Phe) in EPCAM (P16422) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F9F (p.Phe9Phe) variant details
- p.Phe9Phe
- rs1435104298
- gnomAD 2-47369532-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 11.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available