F150S (p.Phe150Ser) variant of SOS2 (Son of sevenless homolog 2)
F150S (p.Phe150Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F150S (p.Phe150Ser) variant details
- p.Phe150Ser
- rs1886424881
- ClinGen CA389649571
- ClinVar RCV001874570
- Ensembl rs1886424881
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.25
- MetaLR 0.28
- MetaSVM -0.69
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)