I87T (p.Ile87Thr) variant of SOS2 (Son of sevenless homolog 2)
I87T (p.Ile87Thr) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I87T (p.Ile87Thr) variant details
- p.Ile87Thr
- rs747274422
- ClinGen CA7177571
- ClinVar RCV002004015
- ClinVar RCV002441198
- Uncertain significance
- Noonan syndrome 9; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.90
- MetaLR 0.71
- MetaSVM 0.56
- CADD 24.40
- PolyPhen-2 0.83
- SIFT 0.03
- 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 2.9e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)