K6E (p.Lys6Glu) variant of CBL (E3 ubiquitin-protein ligase CBL)
K6E (p.Lys6Glu) 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.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- gnomAD 11-119206433-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.30
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.457
- Literature evidence available