P9A (p.Pro9Ala) variant of PTPN11 (Q06124)
P9A (p.Pro9Ala) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P9A (p.Pro9Ala) variant details
- p.Pro9Ala
- 1000Genomes rs566068139
- ExAC rs566068139
- gnomAD rs566068139
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.54
- MetaLR 0.80
- MetaSVM 0.53
- CADD 21.80
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available