I94M (p.Ile94Met) variant of SOS2 (Son of sevenless homolog 2)
I94M (p.Ile94Met) 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 Cardiovascular phenotype; Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I94M (p.Ile94Met) variant details
- p.Ile94Met
- rs753611130
- ClinGen CA7177568
- ClinVar RCV002435074
- ClinVar RCV006471342
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.61
- MetaLR 0.62
- MetaSVM 0.18
- CADD 23.10
- PolyPhen-2 0.49
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)