D83A (p.Asp83Ala) variant of SOS1 (Son of sevenless homolog 1)
D83A (p.Asp83Ala) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D83A (p.Asp83Ala) variant details
- p.Asp83Ala
- ExAC rs749485750
- gnomAD rs749485750
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.86
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available