L11P (p.Leu11Pro) variant of EPCAM (P16422)
L11P (p.Leu11Pro) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- Ensembl rs2103738047
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.68
- MetaLR 0.64
- MetaSVM 0.28
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.05
- Population evidence available
- Structural context available