E9D (p.Glu9Asp) variant of SOS1 (Son of sevenless homolog 1)
E9D (p.Glu9Asp) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- gnomAD rs765768180
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.15
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available