S12C (p.Ser12Cys) variant of SOS2 (Son of sevenless homolog 2)
S12C (p.Ser12Cys) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- 1000Genomes rs201495842
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.40
- MetaLR 0.51
- MetaSVM -0.03
- CADD 26.00
- PolyPhen-2 0.54
- SIFT 0.02
- Population evidence available
- Structural context available