A2T (p.Ala2Thr) variant of EPCAM (P16422)
A2T (p.Ala2Thr) in EPCAM (P16422) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 2-47369509-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.25
- CADD 20.70
- PolyPhen-2 0.04
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available