K6R (p.Lys6Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
K6R (p.Lys6Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- gnomAD 11-119206434-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.457
- Literature evidence available