A21T (p.Ala21Thr) variant of EPCAM (P16422)
A21T (p.Ala21Thr) 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 and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- TOPMed rs1671161562
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.16
- MetaLR 0.32
- MetaSVM -0.79
- CADD 21.50
- PolyPhen-2 0.06
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available