L7F (p.Leu7Phe) variant of EPCAM (P16422)
L7F (p.Leu7Phe) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- Ensembl rs2103737980
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.31
- AlphaMissense 0.10
- MetaLR 0.45
- MetaSVM -0.43
- CADD 20.20
- PolyPhen-2 0.94
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available