S9P (p.Ser9Pro) variant of CBL (E3 ubiquitin-protein ligase CBL)
S9P (p.Ser9Pro) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- rs1170501749
- ClinGen CA382975675
- ClinVar RCV001967438
- gnomAD rs1170501749
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.39
- MetaLR 0.18
- MetaSVM -0.89
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.594