E50K (p.Glu50Lys) variant of SOS2 (Son of sevenless homolog 2)
E50K (p.Glu50Lys) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- cosmic curated COSV10724
- ExAC rs775028449
- gnomAD rs775028449
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.34
- MetaLR 0.48
- MetaSVM -0.32
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available