D169E (p.Asp169Glu) variant of SOS2 (Son of sevenless homolog 2)
D169E (p.Asp169Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D169E (p.Asp169Glu) variant details
- p.Asp169Glu
- rs2503185303
- ClinGen CA389649380
- ClinVar RCV002302128
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.83
- MetaLR 0.84
- MetaSVM 0.72
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)