Q5H (p.Gln5His) variant of EPCAM (P16422)
Q5H (p.Gln5His) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- TOPMed rs1671159747
- gnomAD rs1671159747
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.08
- MetaLR 0.30
- MetaSVM -0.87
- CADD 9.32
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available