E9K (p.Glu9Lys) variant of SOS2 (Son of sevenless homolog 2)
E9K (p.Glu9Lys) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- cosmic curated COSV10724
- ExAC rs751814626
- gnomAD rs751814626
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.39
- MetaLR 0.38
- MetaSVM -0.43
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available