Q2E (p.Gln2Glu) variant of SOS1 (Son of sevenless homolog 1)
Q2E (p.Gln2Glu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q2E (p.Gln2Glu) variant details
- p.Gln2Glu
- ExAC rs587781174
- gnomAD rs587781174
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.30
- CADD 23.90
- PolyPhen-2 0.28
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available