A8E (p.Ala8Glu) variant of EPCAM (P16422)
A8E (p.Ala8Glu) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD 2-47369528-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.30
- CADD 20.10
- PolyPhen-2 0.65
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available