R65Q (p.Arg65Gln) variant of SOS1 (Son of sevenless homolog 1)
R65Q (p.Arg65Gln) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- NCI-TCGA TCGA novel
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.44
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.27
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available