Q178E (p.Gln178Glu) variant of SOS2 (Son of sevenless homolog 2)
Q178E (p.Gln178Glu) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome 9; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q178E (p.Gln178Glu) variant details
- p.Gln178Glu
- rs770603835
- ClinGen CA7177508
- ClinVar RCV001878761
- ClinVar RCV002343934
- Conflicting interpretations
- Noonan syndrome 9; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.54
- MetaLR 0.33
- MetaSVM -0.25
- CADD 22.30
- PolyPhen-2 0.38
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome 9; Cardiovascular phenotype; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00045)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)