C27F (p.Cys27Phe) variant of EPCAM (P16422)
C27F (p.Cys27Phe) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
C27F (p.Cys27Phe) variant details
- p.Cys27Phe
- gnomAD 2-47369152-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.58
- Population evidence available
- Structural context available
- Literature evidence available