S39T (p.Ser39Thr) variant of SOS2 (Son of sevenless homolog 2)
S39T (p.Ser39Thr) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S39T (p.Ser39Thr) variant details
- p.Ser39Thr
- rs2139796314
- ClinGen CA389651456
- ClinVar RCV001879005
- Ensembl rs2139796314
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.20
- MetaLR 0.30
- MetaSVM -0.71
- CADD 17.70
- PolyPhen-2 0.00
- 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 9.2e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)