K38Q (p.Lys38Gln) variant of PTPN2 (P17706)
K38Q (p.Lys38Gln) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K38Q (p.Lys38Gln) variant details
- p.Lys38Gln
- gnomAD rs1291106111
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.16
- CADD 26.40
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available