T14N (p.Thr14Asn) variant of PTPN2 (P17706)
T14N (p.Thr14Asn) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T14N (p.Thr14Asn) variant details
- p.Thr14Asn
- gnomAD rs1184779249
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.11
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available