A15T (p.Ala15Thr) variant of EPCAM (P16422)
A15T (p.Ala15Thr) 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.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- gnomAD 2-47369548-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.19
- CADD 15.20
- PolyPhen-2 0.10
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available