T14A (p.Thr14Ala) variant of PTPN2 (P17706)
T14A (p.Thr14Ala) in PTPN2 (P17706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- ESP rs369944958
- ExAC rs369944958
- TOPMed rs369944958
- gnomAD rs369944958
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.02
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available