D69N (p.Asp69Asn) variant of SOS2 (Son of sevenless homolog 2)
D69N (p.Asp69Asn) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D69N (p.Asp69Asn) variant details
- p.Asp69Asn
- rs2503209200
- ClinGen CA389650977
- ClinVar RCV003592654
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.64
- MetaLR 0.78
- MetaSVM 0.68
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.00
- 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)