D26Y (p.Asp26Tyr) variant of PTPN11 (Q06124)
D26Y (p.Asp26Tyr) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
D26Y (p.Asp26Tyr) variant details
- p.Asp26Tyr
- ExAC rs750261927
- gnomAD rs750261927
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.74
- MetaLR 0.86
- MetaSVM 0.89
- CADD 27.20
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available