T12S (p.Thr12Ser) variant of PTPN11 (Q06124)
T12S (p.Thr12Ser) 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.
T12S (p.Thr12Ser) variant details
- p.Thr12Ser
- gnomAD 12-112446295-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.40
- MetaLR 0.55
- MetaSVM -0.07
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available