S8N (p.Ser8Asn) variant of CBL (E3 ubiquitin-protein ligase CBL)
S8N (p.Ser8Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- rs930860175
- ClinGen CA229653547
- ClinVar RCV000654938
- ClinVar RCV002442370
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.17
- MetaLR 0.17
- MetaSVM -0.97
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.779