P20Q (p.Pro20Gln) variant of PTPN2 (P17706)
P20Q (p.Pro20Gln) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- 1000Genomes rs562857102
- ExAC rs562857102
- gnomAD rs562857102
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available