M29I (p.Met29Ile) variant of CBL (E3 ubiquitin-protein ligase CBL)
M29I (p.Met29Ile) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M29I (p.Met29Ile) variant details
- p.Met29Ile
- gnomAD 11-119206504-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.32
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.578
- Literature evidence available