I26T (p.Ile26Thr) variant of CBL (E3 ubiquitin-protein ligase CBL)
I26T (p.Ile26Thr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome and Noonan-related syndrome; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- rs2135244100
- ClinGen CA382975978
- ClinVar RCV001813639
- ClinVar RCV002542450
- Uncertain significance
- Noonan syndrome and Noonan-related syndrome; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.40
- MetaLR 0.22
- MetaSVM -0.86
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome and Noonan-related syndrome; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.193