T22P (p.Thr22Pro) variant of PTPN11 (Q06124)
T22P (p.Thr22Pro) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T22P (p.Thr22Pro) variant details
- p.Thr22Pro
- gnomAD 12-112446325-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.39
- MetaLR 0.47
- MetaSVM -0.33
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available