E13Q (p.Glu13Gln) variant of SOS1 (Son of sevenless homolog 1)
E13Q (p.Glu13Gln) 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 0.41 / 1. The record also includes population frequency data and structural context.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- rs766698773
- ClinGen CA1624897
- ClinVar RCV002731327
- ExAC rs766698773
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available