D26D (p.Asp26Asp) variant of PTPN11 (Q06124)
D26D (p.Asp26Asp) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D26D (p.Asp26Asp) variant details
- p.Asp26Asp
- gnomAD 12-112446339-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 12.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available