L56F (p.Leu56Phe) variant of SOS2 (Son of sevenless homolog 2)
L56F (p.Leu56Phe) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- rs2503209483
- ClinGen CA389651184
- ClinVar RCV003592154
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.72
- MetaLR 0.72
- MetaSVM 0.58
- CADD 26.50
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)