I11T (p.Ile11Thr) variant of PTPN11 (Q06124)
I11T (p.Ile11Thr) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
I11T (p.Ile11Thr) variant details
- p.Ile11Thr
- rs1181579972
- ClinGen CA386776154
- ClinVar RCV003539587
- gnomAD rs1181579972
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.88
- MetaLR 0.83
- MetaSVM 0.84
- CADD 27.80
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available