G3S (p.Gly3Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
G3S (p.Gly3Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- gnomAD rs1949268770
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.25
- MetaLR 0.17
- MetaSVM -1.01
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.2