L28I (p.Leu28Ile) variant of CBL (E3 ubiquitin-protein ligase CBL)
L28I (p.Leu28Ile) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L28I (p.Leu28Ile) variant details
- p.Leu28Ile
- gnomAD 11-119206499-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.21
- CADD 21.50
- PolyPhen-2 0.14
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.12
- Literature evidence available