Q5K (p.Gln5Lys) variant of EPCAM (P16422)
Q5K (p.Gln5Lys) in EPCAM (P16422) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q5K (p.Gln5Lys) variant details
- p.Gln5Lys
- ExAC rs747738988
- TOPMed rs747738988
- gnomAD rs747738988
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.10
- MetaLR 0.27
- MetaSVM -0.91
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available