N4K (p.Asn4Lys) variant of CBL (E3 ubiquitin-protein ligase CBL)
N4K (p.Asn4Lys) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- gnomAD 11-119206429-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.24
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.0412
- Literature evidence available