K30K (p.Lys30Lys) variant of CBL (E3 ubiquitin-protein ligase CBL)
K30K (p.Lys30Lys) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K30K (p.Lys30Lys) variant details
- p.Lys30Lys
- gnomAD 11-119206507-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 12.80
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.909
- Literature evidence available