S17F (p.Ser17Phe) variant of CBL (E3 ubiquitin-protein ligase CBL)
S17F (p.Ser17Phe) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- gnomAD rs1222060551
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.32
- MetaLR 0.20
- MetaSVM -0.84
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.36