T52T (p.Thr52Thr) variant of PTPN11 (Q06124)
T52T (p.Thr52Thr) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T52T (p.Thr52Thr) variant details
- p.Thr52Thr
- rs147388185
- gnomAD 12-112450336-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 9.81
- SIFT 0.00
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Literature evidence available