F11Y (p.Phe11Tyr) variant of SOS2 (Son of sevenless homolog 2)
F11Y (p.Phe11Tyr) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
F11Y (p.Phe11Tyr) variant details
- p.Phe11Tyr
- rs2503347084
- ClinGen CA389657596
- ClinVar RCV002454687
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.23
- MetaLR 0.33
- MetaSVM -0.67
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available