I26F (p.Ile26Phe) variant of CBL (E3 ubiquitin-protein ligase CBL)
I26F (p.Ile26Phe) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I26F (p.Ile26Phe) variant details
- p.Ile26Phe
- gnomAD 11-119206493-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.46
- CADD 24.30
- PolyPhen-2 0.27
- SIFT 0.01
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.193
- Literature evidence available