V30F (p.Val30Phe) variant of SOS2 (Son of sevenless homolog 2)
V30F (p.Val30Phe) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V30F (p.Val30Phe) variant details
- p.Val30Phe
- rs758144954
- ExAC rs758144954
- gnomAD rs758144954
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.74
- MetaLR 0.77
- MetaSVM 0.69
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available