P9R (p.Pro9Arg) variant of PTPN11 (Q06124)
P9R (p.Pro9Arg) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- 1000Genomes rs536503257
- ExAC rs536503257
- gnomAD rs536503257
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.59
- MetaLR 0.78
- MetaSVM 0.33
- CADD 22.50
- PolyPhen-2 0.21
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available