I130M (p.Ile130Met) variant of SOS2 (Son of sevenless homolog 2)
I130M (p.Ile130Met) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I130M (p.Ile130Met) variant details
- p.Ile130Met
- rs1886426829
- ClinGen CA389649704
- ClinVar RCV001299278
- Ensembl rs1886426829
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.33
- MetaLR 0.19
- MetaSVM -0.77
- CADD 22.90
- PolyPhen-2 0.59
- SIFT 0.11
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)