G14S (p.Gly14Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
G14S (p.Gly14Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs1565851542
- ClinGen CA382975764
- ClinVar RCV000686788
- Ensembl rs1565851542
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.19
- AlphaMissense 0.11
- MetaLR 0.28
- MetaSVM -0.58
- CADD 22.50
- PolyPhen-2 0.19
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.365