S9F (p.Ser9Phe) variant of CBL (E3 ubiquitin-protein ligase CBL)
S9F (p.Ser9Phe) 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 not provided; RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs772525018
- ClinGen CA6318212
- ClinVar RCV003108423
- ClinVar RCV005310944
- Uncertain significance
- not provided; RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.44
- AlphaMissense 0.52
- MetaLR 0.56
- MetaSVM 0.17
- CADD 23.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.594