G13S (p.Gly13Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
G13S (p.Gly13Ser) 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 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- rs2496819155
- ClinGen CA382975743
- ClinVar RCV003655641
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.09
- MetaLR 0.15
- MetaSVM -1.01
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.447