F9I (p.Phe9Ile) variant of EPCAM (P16422)
F9I (p.Phe9Ile) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F9I (p.Phe9Ile) variant details
- p.Phe9Ile
- gnomAD 2-47369530-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.12
- CADD 20.80
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available