Q46R (p.Gln46Arg) variant of SOS1 (Son of sevenless homolog 1)
Q46R (p.Gln46Arg) 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 0.53 / 1. The record also includes population frequency data and structural context.
Q46R (p.Gln46Arg) variant details
- p.Gln46Arg
- gnomAD rs1190714377
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.54
- AlphaMissense 0.10
- MetaLR 0.48
- MetaSVM -0.18
- CADD 23.20
- PolyPhen-2 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available