P4Q (p.Pro4Gln) variant of EPCAM (P16422)
P4Q (p.Pro4Gln) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- ExAC rs778641299
- TOPMed rs778641299
- gnomAD rs778641299
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.24
- MetaLR 0.51
- MetaSVM -0.45
- CADD 16.30
- PolyPhen-2 0.60
- SIFT 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available