L23F (p.Leu23Phe) variant of SOS2 (Son of sevenless homolog 2)
L23F (p.Leu23Phe) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- rs1003888969
- ClinGen CA260739996
- ClinVar RCV003592856
- 1000Genomes rs1003888969
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.20
- MetaLR 0.25
- MetaSVM -0.79
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)