L12P (p.Leu12Pro) variant of EPCAM (P16422)
L12P (p.Leu12Pro) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- Ensembl rs2103738066
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.66
- MetaLR 0.60
- MetaSVM 0.20
- CADD 25.00
- PolyPhen-2 0.83
- SIFT 0.20
- Population evidence available
- Structural context available