C167F (p.Cys167Phe) variant of SOS2 (Son of sevenless homolog 2)
C167F (p.Cys167Phe) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C167F (p.Cys167Phe) variant details
- p.Cys167Phe
- gnomAD rs1283726128
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.69
- MetaLR 0.30
- MetaSVM -0.45
- CADD 27.40
- PolyPhen-2 0.69
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available