L7R (p.Leu7Arg) variant of EPCAM (P16422)
L7R (p.Leu7Arg) in EPCAM (P16422) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- gnomAD 2-47369091-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 1.08
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available
- Literature evidence available