T19S (p.Thr19Ser) variant of EPCAM (P16422)
T19S (p.Thr19Ser) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- TOPMed rs931338743
- gnomAD rs931338743
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.05
- MetaLR 0.12
- MetaSVM -1.00
- CADD 5.38
- PolyPhen-2 0.02
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available