T17A (p.Thr17Ala) variant of EPCAM (P16422)
T17A (p.Thr17Ala) in EPCAM (P16422) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- Ensembl rs973357252
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.12
- MetaLR 0.24
- MetaSVM -0.94
- CADD 7.12
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available