E25V (p.Glu25Val) variant of EPCAM (P16422)
E25V (p.Glu25Val) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E25V (p.Glu25Val) variant details
- p.Glu25Val
- rs878854494
- ClinGen CA10581974
- ClinVar RCV005090170
- Ensembl rs878854494
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.06
- MetaLR 0.24
- MetaSVM -0.92
- CADD 25.30
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available