S158P (p.Ser158Pro) variant of SOS2 (Son of sevenless homolog 2)
S158P (p.Ser158Pro) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S158P (p.Ser158Pro) variant details
- p.Ser158Pro
- rs1210780288
- ClinGen CA389649518
- ClinVar RCV003076306
- gnomAD rs1210780288
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.54
- MetaLR 0.36
- MetaSVM -0.30
- CADD 26.20
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)