R100G (p.Arg100Gly) variant of SOS2 (Son of sevenless homolog 2)
R100G (p.Arg100Gly) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R100G (p.Arg100Gly) variant details
- p.Arg100Gly
- TOPMed rs112221991
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.88
- MetaLR 0.75
- MetaSVM 0.65
- CADD 29.00
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available