P20R (p.Pro20Arg) variant of PTPN2 (P17706)
P20R (p.Pro20Arg) 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.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- cosmic curated COSV58999
- 1000Genomes rs562857102
- ExAC rs562857102
- gnomAD rs562857102
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.04
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the East Asian population (allele frequency 0.00022)
- Structural context available