A32D (p.Ala32Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
A32D (p.Ala32Asp) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A32D (p.Ala32Asp) variant details
- p.Ala32Asp
- gnomAD 11-119206512-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.29
- CADD 23.60
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.6
- Literature evidence available