T22T (p.Thr22Thr) variant of PTPN11 (Q06124)
T22T (p.Thr22Thr) 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.
T22T (p.Thr22Thr) variant details
- p.Thr22Thr
- rs397516808
- gnomAD 12-112446327-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 9.45
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)