K7R (p.Lys7Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
K7R (p.Lys7Arg) 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.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- gnomAD 11-119206437-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.30
- CADD 23.60
- PolyPhen-2 0.17
- SIFT 0.02
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.308
- Literature evidence available