G10A (p.Gly10Ala) variant of CBL (E3 ubiquitin-protein ligase CBL)
G10A (p.Gly10Ala) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- TOPMed rs1423866481
- gnomAD rs1423866481
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.28
- MetaLR 0.18
- MetaSVM -0.74
- CADD 21.60
- PolyPhen-2 0.14
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.0267