L7Q (p.Leu7Gln) variant of EPCAM (P16422)
L7Q (p.Leu7Gln) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- gnomAD 2-47369092-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0982
- CADD 2.48
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available