E13G (p.Glu13Gly) variant of SOS2 (Son of sevenless homolog 2)
E13G (p.Glu13Gly) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- ExAC rs758896322
- gnomAD rs758896322
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.31
- MetaLR 0.51
- MetaSVM -0.16
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available