I54I (p.Ile54Ile) variant of PTPN11 (Q06124)
I54I (p.Ile54Ile) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I54I (p.Ile54Ile) variant details
- p.Ile54Ile
- rs1207829516
- gnomAD 12-112450342-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 12.70
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Literature evidence available