A16S (p.Ala16Ser) variant of EPCAM (P16422)
A16S (p.Ala16Ser) in EPCAM (P16422) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- TOPMed rs1304699926
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -0.76
- CADD 13.10
- PolyPhen-2 0.07
- SIFT 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available