S17P (p.Ser17Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
S17P (p.Ser17Pro) 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.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- rs1357308168
- ClinGen CA382975828
- ClinVar RCV003539717
- gnomAD rs1357308168
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.29
- MetaLR 0.16
- MetaSVM -0.96
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.36