Q4R (p.Gln4Arg) variant of SOS1 (Son of sevenless homolog 1)
Q4R (p.Gln4Arg) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q4R (p.Gln4Arg) variant details
- p.Gln4Arg
- rs770627276
- ClinGen CA1624904
- ClinVar RCV003655833
- ExAC rs770627276
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.24
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available