A11T (p.Ala11Thr) variant of CBL (E3 ubiquitin-protein ligase CBL)
A11T (p.Ala11Thr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD 11-119206448-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.24
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.02
- Literature evidence available