E108G (p.Glu108Gly) variant of SOS1 (Son of sevenless homolog 1)
E108G (p.Glu108Gly) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E108G (p.Glu108Gly) variant details
- p.Glu108Gly
- rs886041923
- ClinGen CA10602855
- ClinVar RCV000265265
- ClinVar RCV002321944
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.56
- AlphaMissense 0.93
- MetaLR 0.57
- MetaSVM 0.20
- CADD 26.40
- PolyPhen-2 0.60
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in NS4)
- UniProt: Pathogenic (in NS4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available