G19S (p.Gly19Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
G19S (p.Gly19Ser) 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 Cardiovascular phenotype; 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.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- rs1257650494
- ClinGen CA382975849
- ClinVar RCV002040796
- ClinVar RCV005308688
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.16
- AlphaMissense 0.10
- MetaLR 0.30
- MetaSVM -0.67
- CADD 22.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.525