Q68E (p.Gln68Glu) variant of SOS2 (Son of sevenless homolog 2)
Q68E (p.Gln68Glu) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q68E (p.Gln68Glu) variant details
- p.Gln68Glu
- gnomAD rs1382054541
- Likely benign
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.42
- MetaLR 0.58
- MetaSVM 0.00
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.03
- ClinVar: Likely benign (Noonan syndrome 9)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available