T42T (p.Thr42Thr) variant of PTPN11 (Q06124)
T42T (p.Thr42Thr) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T42T (p.Thr42Thr) variant details
- p.Thr42Thr
- rs2037995126
- gnomAD 12-112446387-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.86
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available