D83G (p.Asp83Gly) variant of SOS1 (Son of sevenless homolog 1)
D83G (p.Asp83Gly) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
D83G (p.Asp83Gly) variant details
- p.Asp83Gly
- ExAC rs749485750
- gnomAD rs749485750
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.88
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available