P9S (p.Pro9Ser) variant of PTPN11 (Q06124)
P9S (p.Pro9Ser) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- 1000Genomes rs566068139
- ExAC rs566068139
- gnomAD rs566068139
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.66
- MetaLR 0.82
- MetaSVM 0.62
- CADD 22.60
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available