F11L (p.Phe11Leu) variant of SOS1 (Son of sevenless homolog 1)
F11L (p.Phe11Leu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F11L (p.Phe11Leu) variant details
- p.Phe11Leu
- rs1673826225
- ClinGen CA346374725
- ClinVar RCV001058145
- Ensembl rs1673826225
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available