L13Q (p.Leu13Gln) variant of EPCAM (P16422)
L13Q (p.Leu13Gln) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- rs1238435265
- gnomAD 2-47369128-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 14.70
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Literature evidence available