P9Q (p.Pro9Gln) variant of PTPN11 (Q06124)
P9Q (p.Pro9Gln) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- 1000Genomes rs536503257
- ExAC rs536503257
- gnomAD rs536503257
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.68
- MetaLR 0.84
- MetaSVM 0.66
- CADD 23.80
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available