Q34K (p.Gln34Lys) variant of CBL (E3 ubiquitin-protein ligase CBL)
Q34K (p.Gln34Lys) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q34K (p.Gln34Lys) variant details
- p.Gln34Lys
- Ensembl rs2135244149
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.41
- MetaLR 0.21
- MetaSVM -0.76
- CADD 23.20
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.0479