S20L (p.Ser20Leu) variant of CBL (E3 ubiquitin-protein ligase CBL)
S20L (p.Ser20Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S20L (p.Ser20Leu) variant details
- p.Ser20Leu
- rs750572996
- ClinGen CA6318220
- ClinVar RCV003539482
- ClinVar RCV004302608
- Uncertain significance
- Cardiovascular phenotype; RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.11
- AlphaMissense 0.14
- MetaLR 0.57
- MetaSVM 0.23
- CADD 22.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.898