K30N (p.Lys30Asn) variant of CBL (E3 ubiquitin-protein ligase CBL)
K30N (p.Lys30Asn) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- gnomAD 11-119206507-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.29
- CADD 25.30
- PolyPhen-2 0.46
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.909
- Literature evidence available