R28Q (p.Arg28Gln) variant of SOS2 (Son of sevenless homolog 2)
R28Q (p.Arg28Gln) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 9; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- rs1887533896
- ClinGen CA389657450
- ClinVar RCV002434902
- ClinVar RCV003591946
- Uncertain significance
- Noonan syndrome 9; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.49
- MetaLR 0.49
- MetaSVM 0.05
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (Noonan syndrome 9; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)