T2A (p.Thr2Ala) variant of PTPN11 (Q06124)
T2A (p.Thr2Ala) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- Ensembl rs2135817439
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.05
- MetaLR 0.17
- MetaSVM -0.92
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.73
- Population evidence available
- Structural context available