L172F (p.Leu172Phe) variant of SOS2 (Son of sevenless homolog 2)
L172F (p.Leu172Phe) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L172F (p.Leu172Phe) variant details
- p.Leu172Phe
- rs561507728
- ClinGen CA389648368
- ClinVar RCV001219555
- TOPMed rs561507728
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.55
- MetaLR 0.73
- MetaSVM 0.50
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)