Q104E (p.Gln104Glu) variant of PTPN2 (P17706)
Q104E (p.Gln104Glu) in PTPN2 (P17706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q104E (p.Gln104Glu) variant details
- p.Gln104Glu
- rs957380233
- gnomAD 18-12793542-CTTTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 6.57
- Population evidence available
- Structural context available
- Literature evidence available