E9Q (p.Glu9Gln) variant of SOS2 (Son of sevenless homolog 2)
E9Q (p.Glu9Gln) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- ExAC rs751814626
- gnomAD rs751814626
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.29
- MetaLR 0.42
- MetaSVM -0.26
- CADD 23.40
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available