L7L (p.Leu7Leu) variant of EPCAM (P16422)
L7L (p.Leu7Leu) in EPCAM (P16422) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- gnomAD 2-47369093-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 9.53
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available
- Literature evidence available